Pioneers in Reproductive Genetics
INSTRUCTIONS TO ACCESS TO INFORMATION ABOUT THE DISORDERS STUDIED IN THE CGT TEST
1. For a complete information of the disease, go to the following web page:
http://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN
2. Identify the disease that requires information and locate the PhenoMIM code that appears
in the second column of the table attached below.
3. Enter the code in the 'Simple search' box of the website referred to in point 1, selecting
previously the OMIM option, and then click OK.
(*) In case of error accessing to the website www.orpha.net to locate the attached listing disorders, please inform us by sending us an
e-mail to the following address: [email protected] or phone 963905310 34.
Pioneers in Reproductive Genetics
CGT DISORDERS LIST
DISEASE NAME
Abetalipoproteinemia
Glutaric acidemia type 2 (gene ETFDH)
Glutaric acidemia type 2 (gene ETFA)
Glutaric acidemia type 2 (gene ETFB)
Isovaleric acidemia
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Vitamin B12-unresponsive methylmalonic acidemia type mutVitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Propionic acidemia (gene PCCA)
Propionic acidemia (gene PCCB)
Fatal infantile lactic acidosis with methylmalonic aciduria
3-hydroxy-3-methylglutaric aciduria
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
4-hydroxybutyric aciduria
Argininosuccinic aciduria
D-2-hydroxyglutaric aciduria
Fumaric aciduria
Malonic aciduria
Mevalonic aciduria
Achondrogenesis type 1B
Neonatal adrenoleukodystrophy (gene PEX12)
Neonatal adrenoleukodystrophy (gene PEX12)
Neonatal adrenoleukodystrophy (gene PEX26)
Neonatal adrenoleukodystrophy (gene PEX5)
X-linked agammaglobulinemia
Corpus callosum agenesis - neuronopathy
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Pancreatic agenesis
AICA-ribosiduria
X-linked recessive ocular albinism
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Alkaptonuria
Alpha-thalassemia
Alpha-mannosidosis
Leber congenital amaurosis
Leber congenital amaurosis
Leber congenital amaurosis
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 7
Leber congenital amaurosis 9
Fanconi anemia complementation group A
Fanconi anemia complementation group C
Fanconi anemia, complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group I
Fanconi anemia, complementation group J
Fanconi anemia, complementation group L
Fanconi anemia complementation group M
Fanconi anemia complementation group N
Fanconi anemia complementation group O
PhenoMIM
200100
231680
231680
231680
243500
277400
277410
251120
251000
251100
251110
606054
606054
245400
246450
250950
258501
271980
207900
600721
606812
248360
610377
600972
266510
614867
614873
202370
300755
218000
300472
260370
608688
300500
203100
203200
203290
606574
203500
604131
248500
604393
204000
612712
613341
613843
614186
613829
608553
227650
227645
605724
227646
600901
609053
609054
614083
614087
610832
613390
GEN
MTP
ETFDH
ETFA
ETFB
IVD
MMACHC
MMADHC
MCEE
MUT
MMAA
MMAB
PCCA
PCCB
SUCLG1
HMGCL
AUH
OPA3
ALDH5A1
ASL
D2HGDH
FH
MLYCD
MVK
SLC26A2
PEX12
PEX2
PEX26
PEX5
BTK
SLC12A6
IGBP1
PDX1
ATIC
GPR143
TYR
OCA2
TYRP1
SLC45A2
HGD
HBA
MAN2B1
AIPL1
GUCY2D
RDH12
LRAT
TULP1
KCNJ13
CRX
NMNAT1
FANCA
FANCC
BRCA2
FANCD2
FANCE
FANCI
BRIP1
FANCL
FANCM
PALB2
RAD51C
Pioneers in Reproductive Genetics
Fanconi anemia complementation group P
Fanconi anemia, complementation group G
Sickle cell anemia
Hemolytic anemia due to red cell pyruvate kinase deficiency
X-linked sideroblastic anemia
X-linked sideroblastic anemia - ataxia
Aniridia - cerebellar ataxia - intellectual deficit
Isolated anophthalmia - microphthalmia
Aplasia/hypoplasia of limbs and pelvis
Argininemia
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
Arthrogryposis - renal dysfunction - cholestasis
Aspartylglucosaminuria
Ataxia - oculomotor apraxia type 1
Autosomal recessive ataxia due to ubiquinone deficiency
Ataxia with vitamin E deficiency
Friedreich ataxia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Spinocerebellar ataxia with axonal neuropathy type 2
Infantile onset spinocerebellar ataxia
Lethal ataxia with deafness and optic atrophy
Atelosteogenesis type II
Autosomal recessive distal spinal muscular atrophy type 4
Gyrate atrophy of choroid and retina
Spinal muscular atrophy with respiratory distress
X-linked distal spinal muscular atrophy
X-linked spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Beta-thalassemia
Cataract - intellectual deficit - hypogonadism
Congenital cataracts - facial dysmorphism - neuropathy
Congenital stationary night blindness
Congenital stationary night blindness
Congenital stationary night blindness type 1B
Congenital stationary night blindness type 1E
Ketoacidosis due to beta-ketothiolase deficiency
Cystinosis
Citrullinemia type II adult-onset
Citrullinemia type II, neonatal-onset
Citrullinemia type I
Xeroderma pigmentosum/Cockayne syndrome complex complementation group B
Xeroderma pigmentosum/Cockayne syndrome complex complementation group D
Xeroderma pigmentosum/Cockayne syndrome complex complementation group F
Xeroderma pigmentosum/Cockayne syndrome complex complementation group G
Brachytelephalangic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 3
Pyridoxal phosphate-responsive seizures
Choreoacanthocytosis
Congenital bile acid synthesis defect type 3
Pyruvate dehydrogenase phosphatase deficiency
Isolated CoQ-cytochrome C reductase deficiency
Isolated growth hormone deficiency type III
Isolated thyroid-stimulating hormone deficiency
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 5
Congenital fibrinogen deficiency (gene FGA)
Congenital fibrinogen deficiency (gene FGB)
Congenital bile acid synthesis defect type 4
Congenital factor V deficiency
613951
614082
603903
266200
300751
301310
206700
611038
276820
207800
600142
208085
208400
208920
612016
277460
229300
270550
606002
271245
301835
256050
611067
258870
604320
300489
301830
253300
253550
253400
271150
613985
212720
604168
310500
613830
257270
614565
203750
219800
603471
605814
215700
610651
278730
278760
278780
302950
215100
600121
610090
200150
613812
608782
124000
307200
275100
610498
611719
202400
202400
214950
227400
SLX4
FANCG
HBB
PKLR
ALAS2
ABCB7
PAX6
RAX
WNT7A
ARG1
HTRA1
VPS33B
AGA
APTX
ADCK3
TTPA
FXN
SACS
SETX
C10orf2
PRPS1
SLC26A2
PLEKHG5
OAT
IGHMBP2
ATP7A
UBA1
SMN1
SMN1
SMN1
SMN1
HBB
RAB3GAP2
CTDP1
NYX
SLC24A1
GRM6
GPR179
ACAT1
CTNS
SLC25A13
SLC25A13
ASS1
ERCC3
ERCC2
ERCC4
ERCC5
ARSE
PEX7
AGPS
PNPO
VPS13A
CYP7B1
PDP1
BCS1L
BTK
TSHB
MRPS16
MRPS22
FGA
FGB
AMACR
F5
Pioneers in Reproductive Genetics
Congenital factor XI deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency type 1
3-methylcrotonyl-CoA carboxylase deficiency type 2
Peroxisomal acyl-CoA oxidase deficiency
Acyl-CoA dehydrogenase 9 deficiency
Short chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Alpha-1-antitrypsin deficiency
Alpha-methylacyl-Coa Racemase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Biotinidase deficiency
Carbamoylphosphate synthetase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, infantile form
Carnitine palmitoyl transferase II deficiency, neonatal form
Dihydropyrimidine dehydrogenase deficiency
Bifunctional enzyme deficiency
Phosphoserine aminotransferase deficiency
Glutaryl-CoA dehydrogenase deficiency
Glutathione synthetase deficiency with 5-oxoprolinuria
Guanidinoacetate methyltransferase deficiency
Combined pituitary hormone deficiency with spine abnormalities
Aromatic L-amino acid decarboxylase deficiency
Methionine adenosyltransferase deficiency
Ornithine transcarbamylase deficiency
Pyruvate carboxylase deficiency
Plasminogen deficiency type 1
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (gene MOCS1)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (gene MOCS2)
X-linked creatine transporter deficiency
Mitochondrial respiratory chain complex III deficiency
Mitochondrial respiratory chain complex III deficiency
Complement component 3 deficiency
Combined pituitary hormone deficiencies, genetic forms
Combined pituitary hormone deficiencies, genetic forms
Combined pituitary hormone deficiencies, genetic forms
Lethal restrictive dermopathy
Lethal restrictive dermopathy
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Familial dysautonomia
Renal tubular dysgenesis
Renal tubular dysgenesis
Renal tubular dysgenesis
Renal tubular dysgenesis
Autosomal recessive spondylocostal dysostosis 1
Greenberg dysplasia
Schneckenbecken dysplasia
Ectodermal dysplasia - ectrodactyly - macular dystrophy
Hypohidrotic ectodermal dysplasia
Multiple epiphyseal dysplasia type 4
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Frontometaphyseal dysplasia
612416
610006
609016
210200
210210
264470
611126
201470
201450
201475
613490
614307
609241
609242
253260
237300
255120
600649
608836
274270
261515
610992
231670
266130
612736
221750
608643
250850
311250
266150
217090
609015
609015
252150
252150
300352
124000
124000
613779
182230
613038
262600
275210
275210
610370
223900
267430
267430
267430
267430
277300
215140
269250
225280
305100
226900
608728
305620
Geleophysic dysplasia 1
Lethal osteosclerotic bone dysplasia
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
231050
259775
248370
608612
F11
ACADSB
HADHA
MCCC1
MCCC2
ACOX1
ACAD9
ACADS
ACADM
ACADVL
SERPINA1
AMACR
NAGA
NAGA
BTD
CPS1
CPT1A
CPT2
CPT2
DPYD
HSD17B4
PSAT1
GCDH
GSS
GAMT
LHX3
DDC
MAT1A
OTC
PC
PLG
HADHA
HADHB
MOCS1
MOCS2
SLC6A8
UQCRB
UQCRQ
C3
HESX1
POU1F1
PROP1
LMNA
ZMPSTE24
NEUROG3
IKBKAP
ACE
AGT
AGTR1
REN
DLL3
LBR
SLC35D1
CDH3
ED1
SLC26A2
MATN3
FLNA
ADAMTSL
2
FAM20C
LMNA
ZMPSTE24
Pioneers in Reproductive Genetics
Oculodentodigital dysplasia
Odonto-onycho-dermal dysplasia
Otospondylomegaepiphyseal dysplasia
Renal-hepatic-pancreatic dysplasia
Dyskeratosis congenita 2
Dyskeratosis congenita autosomal recessive 2
Dyskeratosis congenita autosomal recessive 1
Dyskeratosis congenita X-linked
Dystonia 16
Autosomal recessive dopa-responsive dystonia
X-linked dystonia-parkinsonism
Macular corneal dystrophy 1
Bietti crystalline dystrophy
Limb girdle dystrophy with epidermolysis bullosa simplex
Cone dystrophy with supernormal rod response
Progressive cone dystrophy 4
Cone rod dystrophy 10
Cone rod dystrophy 15
Cone rod dystrophy 3
Corneal dystrophy - perceptive deafness
Bothnia retinal dystrophy
Congenital hereditary endothelial dystrophy type II
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy type 1D
Congenital muscular dystrophy type 4B
Congenital muscular dystrophy type 5B
Fukuyama congenital muscular dystrophy
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type C
Autosomal recessive limb-girdle muscular dystrophy type C
Autosomal recessive limb-girdle muscular dystrophy type C
Duchenne muscular dystrophy
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 6
Becker muscular dystrophy
Infantile neuroaxonal dystrophy 2A
Infantile neuroaxonal dystrophy 2B
Diastrophic dwarfism
MULIBREY nanism
Mitochondrial neurogastrointestinal encephalomyopathy
Encephalopathy due to prosaposin deficiency
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy
Ethylmalonic encephalopathy
Severe neonatal-onset encephalopathy with microcephaly
Congenital disorder of glycosilation type It
Free sialic acid storage disease, infantile form
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to glycogen debranching enzyme deficiency
257850
257980
215150
208540
613989
613987
224230
305000
612067
605407
314250
217800
210370
613723
610356
613093
610283
613660
604116
217400
607475
217700
613151
613155
613156
607855
608840
613152
606612
253800
253600
253601
253700
608099
604286
601954
254110
608807
607155
611307
611588
613157
609308
613158
310200
310300
300696
300376
256600
610217
222600
253250
613662
611721
308350
609304
602473
300673
614921
269920
611881
612932
232400
GJA1
WNT10A
COL2A1
NPHP3
TERT
NOLA2
NOP10
DKC1
PRKRA
TH
TAF1
CHST6
CYP4V2
PLEC
KCNV2
PDE6C
SEMA4A
CDHR1
ABCA4
SLC4A11
RLBP1
SLC4A11
POMGNT1
POMT1
POMT2
LAMA2
LARGE
FKTN
FKRP
FKTN
CAPN3
DYSF
SGCG
SGCA
SGCB
TCAP
TRIM32
TTN
FKRP
ANO5
FKTN
POMGNT1
POMT1
POMT2
DMD
EMD
FHL1
DMD
PLA2G6
PLA2G6
SLC26A2
TRIM37
POLG
PSAP
ARX
SLC25A22
ETHE1
MECP2
PGM1
SLC17A5
ALDOA
ENO3
AGL
Pioneers in Reproductive Genetics
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic
form
Glycogen storage disease due to phosphoglucomutase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Glycogen storage disease due to glucose-6-phosphatase deficiency type c
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease type 9C
Posterior column ataxia - Retinitis pigmentosa
Canavan disease
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
X-linked Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease axonal type 2B1
Dent disease 2
Fetal Gaucher disease
Gaucher disease type 2
Gaucher disease type 3
Gaucher disease type 3C
Griscelli disease type 1
Griscelli disease type 2
Classic maple syrup urine disease
Kennedy disease
Krabbe disease
Krabbe disease
Maple syrup urine disease
Maple syrup urine disease (gene BCKDHA)
Maple syrup urine disease (gene BCKDHB)
Menkes disease
Muscle-eye-brain disease
Muscle-eye-brain disease
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Oguchi disease
Refsum disease
Sandhoff disease
Stargardt disease
Stargardt disease 1
Stargardt disease 1
Tay-Sachs disease
Thomsen and Becker disease
Unverricht-Lundborg disease
Wilson disease
X-linked lymphoproliferative disease
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Pelizaeus-Merzbacher-like due to GJC2 mutation
Pelizaeus-Merzbacher-like due to HSPD1 mutation
232500
612934
232600
232220
232240
612933
232300
613027
609033
271900
607831
607706
608340
311070
607734
605589
214400
601382
604563
601596
601455
605253
605253
614895
609311
611228
605588
300555
608013
230900
231000
231005
214450
607624
248600
313200
245200
611722
248600
248600
248600
309400
613153
613154
257200
607616
257220
607625
258100
266500
268800
603786
248200
248200
272800
255700
254800
277900
308240
610505
608804
612233
GBE1
PGM1
PYGM
SLC37A4
SLC37A4
LDHA
GAA
PHKG2
FLVCR1
ASPA
GDAP1
GDAP1
GDAP1
PRPS1
NEFL
MED25
GDAP1
MTMR2
SBF2
SH3TC2
NDRG1
EGR2
MPZ
PRX
FGD4
FIG4
LMNA
OCRL
GBA
GBA
GBA
GBA
MYO5A
RAB27A
DBT
AR
GALC
PSAP
DLD
BCKDHA
BCKDHB
ATP7A
FKRP
LARGE
SMPD1
SMPD1
NPC1
NPC2
SAG
PHYH
HEXB
PROM1
ABCA4
CNGB3
HEXA
CLCN1
CSTB
ATP7B
SH2D1A
TSFM
GJC2
HSPD1
Pioneers in Reproductive Genetics
Lethal acantholytic epidermolysis bullosa
Severe generalized recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Junctional epidermolysis bullosa - pyloric atresia
Junctional epidermolysis bullosa with piloric atresia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type (gene LAMA3)
Junctional epidermolysis bullosa, Herlitz type (gene LAMB3)
Junctional epidermolysis bullosa, Herlitz type (gene LAMC2)
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type (gene LAMA3)
Junctional epidermolysis bullosa, non-Herlitz type (gene LAMB3)
Junctional epidermolysis bullosa, non-Herlitz type (gene LAMC2)
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Progressive epilepsy - intellectual deficit, Finnish type
Phenylketonuria
Fibrochondrogenesis 1
Cystic fibrosis; mucoviscidosis
Familial Mediterranean fever
Fucosidosis
Classic galactosemia
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM2-gangliosidosis, AB variant
Focal segmental glomerulosclerosis
Glycogen storage disease due to glucose-6-phosphatase deficiency type 1a
X-linked intellectual deficit with marfanoid habitus
Hemochromatosis type 1
Hemochromatosis type 3
Hemophilia A
Hemophilia B
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Glycine encephalopathy
Glycine encephalopathy
Glycine encephalopathy
Hyperornithinemia-hyperammonemia-homocitrullinuria
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital lipoid adrenal hyperplasia
Hyperprolinemia type 1
Hyperprolinemia type 2
Childhood-onset hypophosphatasia
Infantile hypophosphatasia
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement
Hypomyelination - congenital cataract
Hypoparathyroidism - intellectual deficit - dysmorphism syndrome
Cytomegalic congenital adrenal hypoplasia
Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Hypothyroidism due to TSH receptor mutations
Histidinemia
Classical homocystinuria
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Ichthyosis follicularis - alopecia - photophobia
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
609638
226600
604129
226730
226730
226650
226700
226700
226700
226650
226650
226650
226650
612138
226670
610003
261600
228520
219700
249100
230000
230400
230500
230600
230650
272750
603278
232200
309520
235200
604250
306700
306900
609060
237310
605899
605899
605899
238970
259900
260000
201910
201710
239500
239510
241510
241500
248190
610532
241410
300200
228930
277470
225753
275200
235800
236200
236250
308205
233650
233650
601457
601457
DSP
COL7A1
COL7A1
ITGA6
ITGB4
COL17A1
LAMA3
LAMB3
LAMC2
ITGB4
LAMA3
LAMB3
LAMC2
PLEC
PLEC
CLN8
PAH
COL11A1
CFTR
MEFV
FUCA1
GALT
GLB1
GLB1
GLB1
GM2A
ACTN4
G6PC
MED12
HFE
TFR2
F8
F9
GFM1
NAGS
AMT
GCSH
GLDC
SLC25A15
AGXT
GRHPR
CYP21A2
STAR
PRODH
ALDH4A1
ALPL
ALPL
CLDN19
FAM126A
TBCE
NROB1
WNT7A
TSEN54
TSEN54
TSHR
HAL
CBS
MTHFR
MBTPS2
RAG1
RAG2
RAG1
RAG2
Pioneers in Reproductive Genetics
Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
T-B+ severe combined immunodeficiency, X-linked
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Immunodeficiency with factor H anomaly
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy
Hereditary fructose intolerance
Lathosterolosis
Leprechaunism
Metachromatic leukodystrophy
Metachromatic leukodystrophy
Megalencephalic leukoencephalopathy with subcortical cysts
Berardinelli-Seip congenital lipodystrophy
Neuronal ceroid lipofuscinosis 2
Adult neuronal ceroid lipofuscinosis
Adult neuronal ceroid lipofuscinosis 10
Adult neuronal ceroid lipofuscinosis 4A
Juvenile neuronal ceroid lipofuscinosis 3
Late infantile neuronal ceroid lipofuscinosis
Late infantile neuronal ceroid lipofuscinosis 5
Late infantile neuronal ceroid lipofuscinosis 6
Late infantile neuronal ceroid lipofuscinosis 8
Autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly 1
Autosomal recessive primary microcephaly 2
Autosomal recessive primary microcephaly 6
Autosomal recessive primary microcephaly 9
Microphthalmia - cataract
Microphthalmia - Retinitis pigmentosa - foveoschisis - optic disc drusen
Syndromic microphthalmia type 9
Dilated cardiomyopathy with ataxia
X-linked centronuclear myopathy
Hereditary inclusion body myopathy type 2
Congenital multicore myopathy with external ophthalmoplegia
Miyoshi myopathy
Miyoshi myopathy
Distal myopathy with anterior tibial onset
Distal myopathy, Nonaka type
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Nemaline myopathy
Nemaline myopathy 2
Mucolipidosis type 2
Mucolipidosis type 3
Mucolipidosis type 4
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 3A (Sanfilippo syndrome type A)
Mucolipidosis type 3D (Sanfilippo disease)
Mucopolysaccharidosis type 4B
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Nanophthalmia
Infantile bilateral striatal necrosis
Pantothenate kinase-associated neurodegeneration
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Navajo neurohepatopathy
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Giant axonal neuropathy
Hereditary sensory and autonomic neuropathy type 4
X-linked severe congenital neutropenia
102700
602450
312863
300400
600802
609814
602450
601705
229600
607330
246200
250100
249900
604004
269700
204500
256730
610127
204300
204200
610951
256731
601780
600143
608716
604804
612703
251200
604317
608393
614852
212550
611040
601186
610198
310400
600737
255320
613319
254130
606768
605820
255125
605355
256030
252500
252600
252650
309900
252900
252940
253010
253200
253220
609549
271930
234200
250620
256810
607459
256850
256800
300299
ADA
DCLRE1C
IL2RG
IL2RG
JAK3
CFH
LIG4
FOXN1
ALDOB
SC5D
INSR
ARSA
PSAP
MLC1
BSCL2
TPP1
PPT1
CTSD
CLN6
CLN3
MFSD8
CLN5
CLN6
CLN8
ASPM
CDK5RAP2
STIL
MCPH1
WDR62
CENPJ
CEP152
SIX6
MFRP
STRA6
DNAJC19
MTM1
GNE
RYR1
ANO5
DYSF
DYSF
GNE
ISCU
TNNT1
NEB
GNPTAB
GNPTAB
MCOLN1
IDS
SGSH
GNS
GLB1
ARSB
GUSB
MFRP
NUP62
PANK2
HIBCH
MPV17
POLG
GAN
NTRK1
WAS
Pioneers in Reproductive Genetics
Autosomal recessive progressive external ophthalmoplegia
Osteogenesis imperfecta type VII
Osteogenesis imperfecta type 8
Osteopetrosis with renal tubular acidosis
Infantile osteopetrosis with neuroaxonal dysplasia
Autosomal recessive malignant osteopetrosis 1
Autosomal recessive malignant osteopetrosis 4
Osteoporosis - pseudoglioma
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 7
Spastic paraplegia type 2, X-linked
Pycnodysostosis
Autosomal recessive polycystic kidney disease
Pseudohypoaldosteronism type 1, autosomal recessive (gene SCNN1A)
Pseudohypoaldosteronism type 1, autosomal recessive (gene SCNN1B)
Pseudohypoaldosteronism type 1, autosomal recessive (gene SCNN1G)
Vitamin D-dependent rickets type 2A
Autosomal recessive hypophosphatemic rickets 1
Autosomal recessive hypophosphatemic rickets 2
Retinopathy, Burgess-Black type
Retinitis pigmentosa 10
Retinitis pigmentosa 12
Retinitis pigmentosa 14
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 3
Retinitis pigmentosa 35
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis Pigmentosa 41
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 49
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 59
Retinitis pigmentosa 62
Growth delay due to insulin-like growth factor type 1 deficiency
Fetal akinesia deformation sequence
ABCD syndrome
Acrocallosal syndrome
COACH syndrome
COFS syndrome 1
Aicardi-Goutières syndrome
Alpers syndrome
Alport syndrome autosomal recessive (gene COL4A3)
Alport syndrome autosomal recessive (gene COL4A4)
Alström syndrome
Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome
Infantile Bartter syndrome with deafness
Antenatal Bartter syndrome
258450
610682
610915
259730
259720
259700
611490
259770
604360
270700
275900
607259
312920
265800
263200
264350
264350
264350
277440
241520
613312
611809
180105
600105
600132
601718
312600
613794
602772
608380
300029
610282
610599
611131
613862
613731
613801
612095
613810
613769
613767
612572
613758
613756
613575
613581
613582
613861
614181
608747
208150
600501
200990
216360
214150
225750
203700
203780
203780
203800
224050
602522
241200
POLG
CRTAP
LEPRE1
CA2
OSTM1
TCIRG1
CLCN7
LRP5
SPG11
ZFYVE26
SPG20
SPG7
PLP1
CTSK
PKHD1
SCNN1A
SCNN1B
SCNN1G
VDR
DMP1
ENPP1
BEST1
IMPDH1
CRB1
TULP1
ABCA4
RP2
RPE65
EYS
CERKL
RPGR
SEMA4A
PRCD
NR2E3
MERTK
RHO
PDE6B
PROM1
PDE6A
RGR
CNGB1
IDH3B
SAG
CNGA1
ARL6
IMPG2
PDE6G
DHDDS
MAK
IGF1
RAPSN
EDNRB
KIF7
TMEM67
ERCC6
TREX1
POLG
COL4A3
COL4A4
ALMS1
VLDLR
BSND
KCNJ1
Pioneers in Reproductive Genetics
Antenatal Bartter syndrome type 1
Björnstad syndrome
Carpenter syndrome
Cockayne syndrome type A
Cockayne syndrome type B
Cohen Syndrome type 1
Rigid spine syndrome
Lethal congenital contracture syndrome type 1
Brittle cornea syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 3
Mitochondrial DNA depletion syndrome, myopathic form
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Donnai-Barrow syndrome
Síndrome de Dursun
Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 7C
Ehlers-Danlos syndrome, cardiac valvular type
Fraser syndrome (gene FRAS1)
Fraser syndrome (gene FRAS2)
Gilbert syndrome
Goldmann-Favre syndrome
Hermansky-Pudlak syndrome
X-linked hyper-IgM syndrome
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
Hoyeraal-Hreidarsson syndrome
Complete androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Jeune syndrome
Johanson-Blizzard syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 6
Joubert syndrome 4
Joubert syndrome with hepatic defect
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with oculorenal defect 5
Joubert syndrome with oculorenal defect; digenic
Kelley-Seegmiller syndrome
Knobloch syndrome 1
Leigh syndrome
Leigh syndrome
Leigh syndrome with nephrotic syndrome
Leigh syndrome with nephrotic syndrome
Leigh syndrome, X-linked
French-Canadian type Leigh syndrome
Lesch-Nyhan syndrome
Lissencephaly syndrome, Norman-Roberts type
Marinesco-Sjögren syndrome
Masa syndrome
McKusick-Kaufman syndrome
Meckel syndrome
Meckel syndrome
Meckel syndrome type 1
Meckel syndrome, type 5
Mohr-Tranebjaerg syndrome
Omenn syndrome
Omenn syndrome (gene RAG1)
Omenn syndrome (gene RAG2)
Perrault syndrome
601678
262000
201000
216400
133540
216550
602771
253310
229200
218800
606785
251880
609560
609528
222448
612541
225400
225410
225320
219000
219000
143500
268100
203300
308230
307000
300240
300068
312300
611263
243800
612291
213300
610688
609583
216360
216360
608629
608091
610188
612285
300323
267750
256000
256000
607426
614652
308930
220111
300322
257320
248800
303350
236700
614175
612284
249000
611561
304700
603554
603554
603554
233400
SLC12A1
BCS1L
RAB23
ERCC8
ERCC6
VPS13B
SEPN1
GLE1
ZNF469
UGT1A1
UGT1A1
DGUOK
TK2
SNAP29
LRP2
G6PC3
PLOD1
ADAMTS2
COL1A2
FRAS1
FREM2
UGT1A1
NR2E3
HPS1
CD40LG
L1CAM
DKC1
AR
AR
IFT80
UBR1
ARL13B
INPP5E
TMEM67
NPHP1
CC2D2A
RPGRIP1L
AHI1
TMEM216
CEP290
CC2D2A
HPRT1
COL18A1
BCS1L
DLD
COQ2
PDSS2
PDHA1
LRPPRC
HPRT1
RELN
SIL1
L1CAM
MKKS
B9D2
CC2D2A
MKS1
RPGRIP1L
TIMM8A
DCLRE1C
RAG1
RAG2
HSD17B4
Pioneers in Reproductive Genetics
Roberts syndrome
Sanfilippo syndrome type C
Schöpf-Schulz-Passarge syndrome
Schwartz-Jampel syndrome
Seckel syndrome
Seckel syndrome
Senior-Loken syndrome
Senior-Loken syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 5
Shwachman-Diamond syndrome
Simpson-Golabi-Behmel syndrome type 2
Smith-Lemli-Opitz syndrome
Autosomal recessive Stickler syndrome type 4
Autosomal recessive Stickler syndrome type 5
Stüve-Wiedemann syndrome
Cold-induced sweating syndrome
Usher syndrome
Usher syndrome type 1
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 2A
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 2C
Usher syndrome type 3A
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg-Shah syndrome 4A
Waardenburg-Shah syndrome 4B
Walker-Warburg syndrome (gene POMT1)
Walker-Warburg syndrome (gene POMGNT1)
Walker-Warburg syndrome (gene POMT2)
Wiskott-Aldrich syndrome
Wolcott-Rallison syndrome
Wolfram syndrome
X-fragile syndrome
Zellweger syndrome 1A
Zellweger syndrome 7A
Occipital horn syndrome
GRACILE syndrome
Hydrolethalus syndrome 1
Hydrolethalus syndrome 2
Micro syndrome
Congenital nephrotic syndrome, Finnish type
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Nephrotic syndrome, tupe 3
Oculocerebrorenal syndrome
Deafness - encephaloneuropathy - obesity - valvulopathy
X-linked mixed deafness with perilymphatic gusher
Autosomal recessive nonsyndromic sensorineural deafness type DFNB 35
Autosomal recessive nonsyndromic sensorineural deafness type DFNB 36
Autosomal recessive nonsyndromic sensorineural deafness type DFNB10
Autosomal recessive nonsyndromic sensorineural deafness type DFNB11
Autosomal recessive nonsyndromic sensorineural deafness type DFNB16
Autosomal recessive nonsyndromic sensorineural deafness type DFNB18
Autosomal recessive nonsyndromic sensorineural deafness type DFNB1A (gene GJB2)
Autosomal recessive nonsyndromic sensorineural deafness type DFNB1A (gene GJB3)
Autosomal recessive nonsyndromic sensorineural deafness type DFNB1B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB2
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
269000
252930
224750
255800
210600
613676
610189
606996
266900
609254
260400
300209
270400
614134
614284
601559
272430
601067
276900
276904
601067
602083
606943
276901
276901
605472
605472
276902
608890
148820
277580
613265
236670
253280
613150
301000
226980
222300
300624
214100
614872
304150
603358
236680
614120
600118
256300
607832
610725
309000
614651
304400
608565
609006
601072
600974
603720
602092
220290
220290
612645
600060
603629
ESCO2
HGSNAT
WNT10A
HSPG2
ATR
CENPJ
CEP290
NPHP4
NPHP1
IQCB1
SBDS
OFD1
DHCR7
COL9A1
COL9A2
LIFR
CRLF1
CDH23
MYO7A
USH1C
PCDH15
PCDH15
USH1G
PDZD7
USH2A
GPR98
PDZD7
CLRN1
SNAI2
PAX3
EDNRB
EDN3
POMT1
POMGNT1
POMT2
WAS
EIF2AK3
WFS1
FMR1
PEX1
PEX26
ATP7A
BCS1L
HYLS1
KIF7
RAB3GAP1
NPHS1
CD2AP
PLCE1
OCRL
PDSS1
POU3F4
ESRRB
ESPN
TMPRSS3
TMC1
STRC
USH1C
GJB2
GJB3
GJB6
MYO7A
TECTA
Pioneers in Reproductive Genetics
Autosomal recessive nonsyndromic sensorineural deafness type DFNB12
Autosomal recessive nonsyndromic sensorineural deafness type DFNB22
Autosomal recessive nonsyndromic sensorineural deafness type DFNB23
Autosomal recessive nonsyndromic sensorineural deafness type DFNB24
Autosomal recessive nonsyndromic sensorineural deafness type DFNB25
Autosomal recessive nonsyndromic sensorineural deafness type DFNB28
Autosomal recessive nonsyndromic sensorineural deafness type DFNB29
Autosomal recessive nonsyndromic sensorineural deafness type DFNB3
Autosomal recessive nonsyndromic sensorineural deafness type DFNB30
Autosomal recessive nonsyndromic sensorineural deafness type DFNB31
Autosomal recessive nonsyndromic sensorineural deafness type DFNB37
Autosomal recessive nonsyndromic sensorineural deafness type DFNB239
Autosomal recessive nonsyndromic sensorineural deafness type DFNB4
601386
607039
609533
611022
613285
609823
614035
600316
607101
607084
607821
608265
600791
Autosomal recessive nonsyndromic sensorineural deafness type DFNB49
Autosomal recessive nonsyndromic sensorineural deafness type DFNB59
Autosomal recessive nonsyndromic sensorineural deafness type DFNB6
Autosomal recessive nonsyndromic sensorineural deafness type DFNB61
Autosomal recessive nonsyndromic sensorineural deafness type DFNB63
Autosomal recessive nonsyndromic sensorineural deafness type DFNB67
Autosomal recessive nonsyndromic sensorineural deafness type DFNB77
Autosomal recessive nonsyndromic sensorineural deafness type DFNB79
Autosomal recessive nonsyndromic sensorineural deafness type DFNB9
Sulfocysteinuria
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ic
Congenital disorder of glycosylation type Ik
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type 2c
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type 1j
Familial exudative vitreoretinopathy 4
Xeroderma pigmentosum complementation group A
Xeroderma pigmentosum complementation group E
610153
610220
600971
613865
611451
610265
613079
613307
601071
272300
276700
276600
276710
212065
602579
603147
608540
212066
266265
607091
603585
608799
608093
601813
278700
278740
CDH23
OTOA
PCDH15
RDX
GRXCR1
TRIOBP
CLDN14
MYO15A
MYO3A
DFNB31
MYO6
HGF
SLC26A4
MARVELD
2
DFNB59
TMIE
SLC26A5
LRTOMT
LHFPL5
LOXHD1
TPRN
OTOF
SUOX
FAH
TAT
HPD
PMM2
MPI
ALG6
ALG1
MGAT2
SLC35C1
B4GALT1
SLC35A1
DPM1
DPAGT1
LRP5
XPA
DDB2