15q13.3 microdeletion syndrome
|
(Orphanet:199318)
|
15q24 microdeletion syndrome
|
(Orphanet:94065)
|
16p11.2p12.2 microdeletion syndrome
|
(Orphanet:261211)
|
16p13.3 microduplication syndrome
|
(Orphanet:96078)
|
17p11.2 microduplication syndrome
|
(Orphanet:1713)
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
1q41q42 microdeletion syndrome
|
(Orphanet:250999)
|
4-hydroxybutyric aciduria
|
(Orphanet:22)
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
|
(Orphanet:753)
|
ADAMS-OLIVER SYNDROME 4
|
(OMIM:615297)
|
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
|
(OMIM:614307)
|
AMELOGENESIS IMPERFECTA, TYPE IE
|
(OMIM:301200)
|
Acro-pectoral syndrome
|
(Orphanet:85203)
|
Acrocallosal syndrome
|
(Orphanet:36)
|
Acrocephalopolydactyly
|
(Orphanet:221054)
|
Adams-Oliver syndrome
|
(Orphanet:974)
|
Agnathia - holoprosencephaly - situs inversus
|
(Orphanet:990)
|
Albright hereditary osteodystrophy
|
(Orphanet:665)
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
|
(Orphanet:98791)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2O
|
(Orphanet:284232)
|
Autosomal dominant optic atrophy and congenital deafness
|
(Orphanet:3212)
|
Autosomal dominant progressive external ophthalmoplegia
|
(Orphanet:254892)
|
Autosomal recessive limb-girdle muscular dystrophy type 2H
|
(Orphanet:1878)
|
Autosomal recessive limb-girdle muscular dystrophy type 2S
|
(Orphanet:369840)
|
Autosomal recessive limb-girdle muscular dystrophy type 2T
|
(Orphanet:363623)
|
Autosomal recessive progressive external ophthalmoplegia
|
(Orphanet:254886)
|
Benign familial chorea
|
(Orphanet:1429)
|
Benign familial neonatal seizures
|
(Orphanet:1949)
|
CHARGE syndrome
|
(Orphanet:138)
|
CORNELIA DE LANGE SYNDROME 4
|
(OMIM:614701)
|
Charcot-Marie-Tooth disease type 4C
|
(Orphanet:99949)
|
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
|
(Orphanet:293955)
|
Coats plus syndrome
|
(Orphanet:313838)
|
Congenital intrauterine infection-like syndrome
|
(Orphanet:1229)
|
Cornelia de Lange syndrome
|
(Orphanet:199)
|
Corticosteroid-binding globulin deficiency
|
(Orphanet:199247)
|
D-glyceric aciduria
|
(Orphanet:941)
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
|
(OMIM:613989)
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1
|
(OMIM:224230)
|
Desmosterolosis
|
(Orphanet:35107)
|
Dihydropyrimidine dehydrogenase deficiency
|
(Orphanet:1675)
|
Dihydropyrimidinuria
|
(Orphanet:38874)
|
Distal monosomy 10q
|
(Orphanet:96148)
|
Distal monosomy 15q
|
(Orphanet:1596)
|
Distal monosomy 6p
|
(Orphanet:96125)
|
Dyskeratosis congenita
|
(Orphanet:1775)
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT
|
(OMIM:612998)
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
|
(OMIM:612999)
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
|
(OMIM:613060)
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3
|
(OMIM:608762)
|
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
|
(Orphanet:300179)
|
Encephalopathy due to GLUT1 deficiency
|
(Orphanet:71277)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
|
(OMIM:615272)
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT
|
(OMIM:600638)
|
FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME
|
(OMIM:246570)
|
Familial amyloid polyneuropathy
|
(Orphanet:85447)
|
Fatal infantile lactic acidosis with methylmalonic aciduria
|
(Orphanet:17)
|
Fibrous dysplasia of bone
|
(Orphanet:249)
|
Gerstmann-Straussler-Scheinker syndrome
|
(Orphanet:356)
|
Ghosal hematodiaphyseal dysplasia
|
(Orphanet:1802)
|
Giant axonal neuropathy
|
(Orphanet:643)
|
Glycogen storage disease due to LAMP-2 deficiency
|
(Orphanet:34587)
|
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
|
(Orphanet:713)
|
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
|
(OMIM:614897)
|
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
|
(OMIM:613345)
|
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
|
(OMIM:300554)
|
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency
|
(Orphanet:71212)
|
Hyperprolinemia type 1
|
(Orphanet:419)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 4
|
(OMIM:613494)
|
IVIC syndrome
|
(Orphanet:2307)
|
Immunodeficiency with factor H anomaly
|
(Orphanet:200421)
|
Inclusion body myositis
|
(Orphanet:611)
|
Intellectual deficit, X-linked, Snyder type
|
(Orphanet:3063)
|
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
|
(Orphanet:6)
|
Joubert syndrome
|
(Orphanet:475)
|
Joubert syndrome 18
|
(OMIM:614815)
|
Joubert syndrome 2
|
(OMIM:608091)
|
Knobloch syndrome
|
(Orphanet:1571)
|
LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3,WITH OR WITHOUT GLOMERULONEPHRITIS
|
(OMIM:613913)
|
Laing distal myopathy
|
(Orphanet:59135)
|
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
|
(Orphanet:137639)
|
Lysinuric protein intolerance
|
(Orphanet:470)
|
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
|
(OMIM:614114)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2
|
(OMIM:613150)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3
|
(OMIM:253280)
|
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
|
(OMIM:255700)
|
Microduplication Xp11.22-p11.23 syndrome
|
(Orphanet:217377)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
|
(Orphanet:369897)
|
Moderate multiminicore disease with hand involvement
|
(Orphanet:178145)
|
Moebius syndrome
|
(Orphanet:570)
|
Monocytopenia with susceptibility to infections
|
(Orphanet:228423)
|
Monosomy 18q
|
(Orphanet:1600)
|
Mosaic variegated aneuploidy syndrome
|
(Orphanet:1052)
|
Multiple system atrophy
|
(Orphanet:102)
|
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
|
(OMIM:310468)
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
|
(OMIM:610217)
|
Nemaline myopathy
|
(Orphanet:607)
|
Nephronophthisis 14
|
(OMIM:614844)
|
Nephronophthisis 15
|
(OMIM:614845)
|
Neuroferritinopathy
|
(Orphanet:157846)
|
Neurological conditions associated with aminoacylase 1 deficiency
|
(Orphanet:137754)
|
Obesity due to prohormone convertase I deficiency
|
(Orphanet:71528)
|
Okihiro syndrome
|
(Orphanet:93293)
|
Paramyotonia congenita of Von Eulenburg
|
(Orphanet:684)
|
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
|
(Orphanet:171848)
|
Pontine tegmental cap dysplasia
|
(Orphanet:269229)
|
Pseudoaminopterin syndrome
|
(Orphanet:221120)
|
Pseudopseudohypoparathyroidism
|
(Orphanet:79445)
|
Renal coloboma syndrome
|
(Orphanet:1475)
|
Renal pseudohypoaldosteronism type 1
|
(Orphanet:171871)
|
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION
|
(OMIM:607565)
|
Schilbach-Rott syndrome
|
(Orphanet:2353)
|
Septo-optic dysplasia
|
(Orphanet:3157)
|
Spastic paraplegia type 2
|
(Orphanet:99015)
|
Spinocerebellar ataxia type 29
|
(Orphanet:208513)
|
Spinocerebellar ataxia with epilepsy
|
(Orphanet:254881)
|
TMCO1 defect syndrome
|
(Orphanet:228407)
|
TMEM165-CDG
|
(Orphanet:314667)
|
TUBEROUS SCLEROSIS 2
|
(OMIM:613254)
|
Thomsen and Becker disease
|
(Orphanet:614)
|
Toriello-Lacassie-Droste syndrome
|
(Orphanet:3339)
|
Tuberous sclerosis
|
(Orphanet:805)
|
VERHEIJ SYNDROME
|
(OMIM:615583)
|
Von Hippel-Lindau disease
|
(Orphanet:892)
|
WAARDENBURG SYNDROME, TYPE 2E
|
(OMIM:611584)
|
X-linked hypophosphatemia
|
(Orphanet:89936)
|
X-linked intellectual deficit - hypotonic face
|
(Orphanet:73220)
|
Xeroderma pigmentosum complementation group F
|
(Orphanet:276264)
|