|
2q37 microdeletion syndrome
|
(Orphanet:1001)
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
(OMIM:614613)
|
|
ALOPECIA-MENTAL RETARDATION SYNDROME 3
|
(OMIM:613930)
|
|
ANGIOMA SERPIGINOSUM, X-LINKED
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(OMIM:300652)
|
|
Allan-Herndon-Dudley syndrome
|
(Orphanet:59)
|
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Amish lethal microcephaly
|
(Orphanet:99742)
|
|
Arterial tortuosity syndrome
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(Orphanet:3342)
|
|
Autosomal recessive epidermolysis bullosa simplex
|
(Orphanet:89838)
|
|
BARTTER SYNDROME, TYPE 4B
|
(OMIM:613090)
|
|
BLEEDING DISORDER, PLATELET-TYPE, 12
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(OMIM:605735)
|
|
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY
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(OMIM:601357)
|
|
Bilateral renal agenesis
|
(Orphanet:1848)
|
|
Bleeding diathesis due to a collagen receptor defect
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(Orphanet:73271)
|
|
Brain-lung-thyroid syndrome
|
(Orphanet:209905)
|
|
CAMOS syndrome
|
(Orphanet:83472)
|
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3
|
(OMIM:613227)
|
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4
|
(OMIM:615268)
|
|
CEREBROOCULOFACIOSKELETAL SYNDROME 4
|
(OMIM:610758)
|
|
CILIARY DYSKINESIA, PRIMARY, 16
|
(OMIM:614017)
|
|
CILIARY DYSKINESIA, PRIMARY, 17
|
(OMIM:614679)
|
|
CILIARY DYSKINESIA, PRIMARY, 2
|
(OMIM:606763)
|
|
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO
|
(OMIM:610805)
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
|
(OMIM:614576)
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
|
(OMIM:615282)
|
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
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Cerebro-facio-articular syndrome
|
(Orphanet:314679)
|
|
Charcot-Marie-Tooth disease type 4E
|
(Orphanet:99951)
|
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Cholestasis - pigmentary retinopathy - cleft palate
|
(Orphanet:1415)
|
|
Congenital dyserythropoietic anemia type IV
|
(Orphanet:293825)
|
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Congenital erythropoietic porphyria
|
(Orphanet:79277)
|
|
Congenital factor II deficiency
|
(Orphanet:325)
|
|
Congenital factor XIII deficiency
|
(Orphanet:331)
|
|
Congenital fiber-type disproportion myopathy
|
(Orphanet:2020)
|
|
Congenital hydrocephalus
|
(Orphanet:2185)
|
|
Congenital ichthyosis - intellectual deficit - spastic quadriplegia
|
(Orphanet:352333)
|
|
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
|
(Orphanet:280671)
|
|
Congenital muscular dystrophy with cerebellar involvement
|
(Orphanet:370959)
|
|
Congenital muscular dystrophy with intellectual disability and severe epilepsy
|
(Orphanet:329178)
|
|
Congenital nephrotic syndrome, Finnish type
|
(Orphanet:839)
|
|
Congenital neuronal ceroid lipofuscinosis
|
(Orphanet:168486)
|
|
Congenital plasminogen activator inhibitor type 1 deficiency
|
(Orphanet:465)
|
|
Congenital unilateral hypoplasia of depressor anguli oris
|
(Orphanet:1166)
|
|
Cranio-osteoarthropathy
|
(Orphanet:1525)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
(OMIM:600060)
|
|
DPAGT1-CDG
|
(Orphanet:86309)
|
|
Deafness - onychodystrophy
|
(Orphanet:3231)
|
|
Distal monosomy 15q
|
(Orphanet:1596)
|
|
Dysequilibrium syndrome
|
(Orphanet:1766)
|
|
Early-onset myopathy with fatal cardiomyopathy
|
(Orphanet:289377)
|
|
Encephalopathy due to prosaposin deficiency
|
(Orphanet:139406)
|
|
Epidermolysis bullosa simplex with pyloric atresia
|
(Orphanet:158684)
|
|
FACTOR XIII, B SUBUNIT, DEFICIENCY OF
|
(OMIM:613235)
|
|
Facial dysmorphism - immunodeficiency - livedo - short stature
|
(Orphanet:352712)
|
|
Familial dysautonomia
|
(Orphanet:1764)
|
|
Familial progressive hyperpigmentation
|
(Orphanet:79146)
|
|
Fatal infantile cytochrome C oxidase deficiency
|
(Orphanet:1561)
|
|
Fetal akinesia-cerebral and retinal hemorrhage syndrome
|
(Orphanet:363409)
|
|
Generalized dominant dystrophic epidermolysis bullosa
|
(Orphanet:231568)
|
|
Generalized peeling skin syndrome
|
(Orphanet:263543)
|
|
Growth delay due to insulin-like growth factor I resistance
|
(Orphanet:73273)
|
|
Growth delay due to insulin-like growth factor type 1 deficiency
|
(Orphanet:73272)
|
|
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2
|
(OMIM:615219)
|
|
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
|
(OMIM:614749)
|
|
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
|
(OMIM:614207)
|
|
Hemoglobinopathy Toms River
|
(Orphanet:280615)
|
|
Hereditary mucoepithelial dysplasia
|
(Orphanet:1839)
|
|
Hermansky-Pudlak syndrome with neutropenia
|
(Orphanet:183678)
|
|
Horizontal gaze palsy with progressive scoliosis
|
(Orphanet:2744)
|
|
Hyperekplexia - epilepsy
|
(Orphanet:163985)
|
|
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
|
(Orphanet:363523)
|
|
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2
|
(OMIM:614069)
|
|
Ichthyosis follicularis - alopecia - photophobia
|
(Orphanet:2273)
|
|
Infantile Bartter syndrome with deafness
|
(Orphanet:89938)
|
|
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
|
(Orphanet:284332)
|
|
Intellectual deficit, X-linked, Cantagrel type
|
(Orphanet:85277)
|
|
Intellectual disability-developmental delay-contractures syndrome
|
(Orphanet:3454)
|
|
Isolated congenital hypoglossia/aglossia
|
(Orphanet:141152)
|
|
Joubert syndrome 20
|
(OMIM:614970)
|
|
Junctional epidermolysis bullosa - pyloric atresia
|
(Orphanet:79403)
|
|
Junctional epidermolysis bullosa, Herlitz type
|
(Orphanet:79404)
|
|
Lung agenesis - heart defect - thumb anomalies
|
(Orphanet:1120)
|
|
MEDNIK syndrome
|
(Orphanet:171851)
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
|
(OMIM:615637)
|
|
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS
|
(OMIM:604317)
|
|
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:608716)
|
|
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:608393)
|
|
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:614673)
|
|
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
(OMIM:614741)
|
|
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
|
(OMIM:609456)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13
|
(OMIM:615287)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14
|
(OMIM:615350)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3
|
(OMIM:253280)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5
|
(OMIM:613153)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3
|
(OMIM:613151)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
|
(OMIM:605809)
|
|
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
|
(OMIM:614399)
|
|
Methylmalonic acidemia with homocystinuria, type cblJ
|
(Orphanet:369955)
|
|
Microcephalic primordial dwarfism due to ZNF335 deficiency
|
(Orphanet:329228)
|
|
Microcephaly-capillary malformation syndrome
|
(Orphanet:294016)
|
|
Microlissencephaly
|
(Orphanet:1083)
|
|
Milroy disease
|
(Orphanet:79452)
|
|
Multiple congenital anomalies - hypotonia - seizures syndrome
|
(Orphanet:280633)
|
|
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
|
(OMIM:162370)
|
|
Non-spherocytic hemolytic anemia due to hexokinase deficiency
|
(Orphanet:90031)
|
|
Oculocutaneous albinism type 1
|
(Orphanet:352731)
|
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
|
|
PEROXISOME BIOGENESIS DISORDER 3B
|
(OMIM:266510)
|
|
Polymicrogyria with optic nerve hypoplasia
|
(Orphanet:250972)
|
|
Porencephaly-microcephaly-bilateral congenital cataract syndrome
|
(Orphanet:306547)
|
|
Presynaptic congenital myasthenic syndromes
|
(Orphanet:98914)
|
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
(Orphanet:255182)
|
|
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
|
(OMIM:601331)
|
|
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
|
(OMIM:615415)
|
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
|
(Orphanet:353284)
|
|
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
|
(OMIM:615709)
|
|
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES
|
(OMIM:602471)
|
|
STT3A-CDG
|
(Orphanet:370921)
|
|
STT3B-CDG
|
(Orphanet:370924)
|
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
|
(OMIM:610921)
|
|
Severe generalized recessive dystrophic epidermolysis bullosa
|
(Orphanet:79408)
|
|
Severe intellectual deficit and progressive spastic paraplegia
|
(Orphanet:280763)
|
|
Severe neonatal-onset encephalopathy with microcephaly
|
(Orphanet:209370)
|
|
Spinocerebellar ataxia type 29
|
(Orphanet:208513)
|
|
Susceptibility to respiratory infections associated with CD8alpha chain mutation
|
(Orphanet:169085)
|
|
Transient bullous dermolysis of the newborn
|
(Orphanet:79411)
|
|
USHER SYNDROME, TYPE IJ
|
(OMIM:614869)
|
|
USHER SYNDROME, TYPE IK
|
(OMIM:614990)
|
|
VAN MALDERGEM SYNDROME 2
|
(OMIM:615546)
|
|
VERHEIJ SYNDROME
|
(OMIM:615583)
|
|
Vici syndrome
|
(Orphanet:1493)
|
|
Wiedemann-Rautenstrauch syndrome
|
(Orphanet:3455)
|
|
X-linked dominant chondrodysplasia punctata
|
(Orphanet:35173)
|
|
X-linked progressive cerebellar ataxia
|
(Orphanet:1175)
|