10q22.3q23.3 microdeletion syndrome
|
(Orphanet:276413)
|
19p13.12 microdeletion syndrome
|
(Orphanet:254346)
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2p15p16.1 microdeletion syndrome
|
(Orphanet:261349)
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3-hydroxyisobutyric aciduria
|
(Orphanet:939)
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3-methylglutaconic aciduria type 4
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(Orphanet:67048)
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3C syndrome
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(Orphanet:7)
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4q21 microdeletion syndrome
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(Orphanet:238750)
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5q14.3 microdeletion syndrome
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(Orphanet:228384)
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Absent tibia - polydactyly - arachnoid cyst
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(Orphanet:3328)
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Acalvaria
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(Orphanet:945)
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Acrocallosal syndrome
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(Orphanet:36)
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Adult familial nephronophtisis - spastic quadriparesia
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(Orphanet:2666)
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Agnathia - holoprosencephaly - situs inversus
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(Orphanet:990)
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Aicardi syndrome
|
(Orphanet:50)
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Alexander disease
|
(Orphanet:58)
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Alpha-N-acetylgalactosaminidase deficiency
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(Orphanet:3137)
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Alpha-N-acetylgalactosaminidase deficiency type 1
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(Orphanet:79279)
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Alström syndrome
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(Orphanet:64)
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Aminopterin/methotrexate embryofetopathy
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(Orphanet:1908)
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Amish lethal microcephaly
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(Orphanet:99742)
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Ataxia - pancytopenia
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(Orphanet:2585)
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Ataxia - tapetoretinal degeneration
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(Orphanet:1178)
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Ataxia-deafness-retardation syndrome
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(Orphanet:1188)
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Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
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(Orphanet:1192)
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Autosomal dominant cerebellar ataxia
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(Orphanet:99)
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Autosomal recessive chorioretinopathy-microcephaly
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(Orphanet:2518)
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Biotinidase deficiency
|
(Orphanet:79241)
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Brain malformation - congenital heart disease - postaxial polydactyly
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(Orphanet:75389)
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CHARGE syndrome
|
(Orphanet:138)
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COFS syndrome
|
(Orphanet:1466)
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Carey-Fineman-Ziter syndrome
|
(Orphanet:1358)
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Cataract - nephropathy - encephalopathy
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(Orphanet:1380)
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Central nervous system calcification - deafness - tubular acidosis - anemia
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(Orphanet:3240)
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Cerebellar hypoplasia - tapetoretinal degeneration
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(Orphanet:2246)
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Cerebellum agenesis - hydrocephaly
|
(Orphanet:1397)
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Cerebro-facio-thoracic dysplasia
|
(Orphanet:1394)
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Chondrodysplasia - disorder of sex development
|
(Orphanet:1422)
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Christianson syndrome
|
(Orphanet:85278)
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Chédiak-Higashi syndrome
|
(Orphanet:167)
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Coffin-Lowry syndrome
|
(Orphanet:192)
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Coffin-Siris syndrome
|
(Orphanet:1465)
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Congenital disorder of glycosylation
|
(Orphanet:137)
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Congenital osteogenesis imperfecta - microcephaly - cataracts
|
(Orphanet:2772)
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Cornelia de Lange syndrome
|
(Orphanet:199)
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Cowden syndrome
|
(Orphanet:201)
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Craniosynostosis - Dandy-Walker malformation - hydrocephalus
|
(Orphanet:1538)
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Craniotelencephalic dysplasia
|
(Orphanet:1528)
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Crouzon disease
|
(Orphanet:207)
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Crouzon syndrome - acanthosis nigricans
|
(Orphanet:93262)
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Deafness - genital anomalies - metacarpal and metatarsal synostosis
|
(Orphanet:3224)
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Diabetic embryopathy
|
(Orphanet:1926)
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Ectodermal dysplasia - intellectual deficit - central nervous system malformation
|
(Orphanet:1812)
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Erdheim-Chester disease
|
(Orphanet:35687)
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Fragile X-associated tremor/ataxia syndrome
|
(Orphanet:93256)
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Fried syndrome
|
(Orphanet:85335)
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Frontonasal dysplasia with alopecia and genital anomaly
|
(Orphanet:228390)
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Gómez-López-Hernández syndrome
|
(Orphanet:1532)
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Hallermann-Streiff syndrome
|
(Orphanet:2108)
|
Holoprosencephaly
|
(Orphanet:2162)
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Holoprosencephaly - postaxial polydactyly
|
(Orphanet:2166)
|
Hoyeraal-Hreidarsson syndrome
|
(Orphanet:3322)
|
Ichthyosis follicularis - alopecia - photophobia
|
(Orphanet:2273)
|
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
|
(Orphanet:1568)
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Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
|
(Orphanet:85317)
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Ito hypomelanosis
|
(Orphanet:435)
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Joubert syndrome
|
(Orphanet:475)
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Joubert syndrome with hepatic defect
|
(Orphanet:1454)
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Joubert syndrome with ocular defect
|
(Orphanet:220493)
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Joubert syndrome with oculorenal defect
|
(Orphanet:2318)
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Joubert syndrome with orofaciodigital defect
|
(Orphanet:2754)
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Joubert syndrome with renal defect
|
(Orphanet:220497)
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Jung-Wolff-Back-Stahl syndrome
|
(Orphanet:2321)
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KID syndrome
|
(Orphanet:477)
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L-2-hydroxyglutaric aciduria
|
(Orphanet:79314)
|
Lambert syndrome
|
(Orphanet:1296)
|
Leber congenital amaurosis
|
(Orphanet:65)
|
Lethal multiple pterygium syndrome
|
(Orphanet:33108)
|
Lhermitte-Duclos disease
|
(Orphanet:65285)
|
Linear nevus sebaceus syndrome
|
(Orphanet:2612)
|
MELAS
|
(Orphanet:550)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
|
(OMIM:613192)
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Macrocephaly - short stature - paraplegia
|
(Orphanet:2427)
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
Marinesco-Sjögren syndrome
|
(Orphanet:559)
|
Marshall-Smith syndrome
|
(Orphanet:561)
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Maternally-inherited diabetes and deafness
|
(Orphanet:225)
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Megalencephaly-capillary malformation-polymicrogyria syndrome
|
(Orphanet:60040)
|
Micro syndrome
|
(Orphanet:2510)
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Microlissencephaly - micromelia
|
(Orphanet:50810)
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Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Morse-Rawnsley-Sargent syndrome
|
(Orphanet:2570)
|
Mosaic variegated aneuploidy syndrome
|
(Orphanet:1052)
|
Mowat-Wilson syndrome
|
(Orphanet:2152)
|
Muscle-eye-brain disease
|
(Orphanet:588)
|
Neu-Laxova syndrome
|
(Orphanet:2671)
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Neurocutaneous melanocytosis
|
(Orphanet:2481)
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Neurodegeneration with brain iron accumulation
|
(Orphanet:385)
|
Neuroectodermal melanolysosomal disease
|
(Orphanet:33445)
|
Norrie disease
|
(Orphanet:649)
|
Oculo-reno-cerebellar syndrome
|
(Orphanet:2715)
|
Oculocerebral hypopigmentation syndrome, Preus type
|
(Orphanet:2720)
|
Oculocerebrocutaneous syndrome
|
(Orphanet:1647)
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
Olivopontocerebellar atrophy - deafness
|
(Orphanet:2732)
|
Orofaciodigital syndrome type 2
|
(Orphanet:2751)
|
Otopalatodigital syndrome type 2
|
(Orphanet:90652)
|
PEHO syndrome
|
(Orphanet:2836)
|
PHACE syndrome
|
(Orphanet:42775)
|
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
|
(Orphanet:65288)
|
Perrault Syndrome
|
(Orphanet:2855)
|
Pontocerebellar hypoplasia type 1
|
(Orphanet:2254)
|
Port-wine nevi - mega cisterna magna - hydrocephalus
|
(Orphanet:2703)
|
Primary cutis verticis gyrata
|
(Orphanet:671)
|
Retinopathy - anemia- central nervous system anomalies
|
(Orphanet:3088)
|
Rhombencephalosynapsis
|
(Orphanet:59315)
|
Septo-optic dysplasia
|
(Orphanet:3157)
|
Smith-Lemli-Opitz syndrome
|
(Orphanet:818)
|
Spastic ataxia - corneal dystrophy
|
(Orphanet:2572)
|
Spinocerebellar ataxia - dysmorphism
|
(Orphanet:1185)
|
Thyrocerebrorenal syndrome
|
(Orphanet:3327)
|
Toriello-Carey syndrome
|
(Orphanet:3338)
|
Trisomy 1q
|
(Orphanet:261344)
|
Ulbright-Hodes syndrome
|
(Orphanet:3404)
|
Usher syndrome
|
(Orphanet:886)
|
Usher syndrome type 1
|
(Orphanet:231169)
|
Usher syndrome type 2
|
(Orphanet:231178)
|
Van den Ende-Gupta syndrome
|
(Orphanet:2460)
|
Vici syndrome
|
(Orphanet:1493)
|
Von Hippel-Lindau disease
|
(Orphanet:892)
|
Walker-Warburg syndrome
|
(Orphanet:899)
|
White matter hypoplasia - corpus callosum agenesis - intellectual deficit
|
(Orphanet:3207)
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|
X-linked complicated corpus callosum dysgenesis
|
(Orphanet:1497)
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
(Orphanet:163966)
|
X-linked intellectual deficit - cerebellar hypoplasia
|
(Orphanet:137831)
|
X-linked intellectual deficit, Najm type
|
(Orphanet:163937)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|