16p13.11 microdeletion syndrome
|
(Orphanet:261236)
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16q24.3 microdeletion syndrome
|
(Orphanet:261250)
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2p15p16.1 microdeletion syndrome
|
(Orphanet:261349)
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3C syndrome
|
(Orphanet:7)
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Acalvaria
|
(Orphanet:945)
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Aicardi syndrome
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(Orphanet:50)
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Amish lethal microcephaly
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(Orphanet:99742)
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Autosomal recessive chorioretinopathy-microcephaly
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(Orphanet:2518)
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Baraitser-Winter syndrome
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(Orphanet:2995)
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Bilateral striopallidodentate calcinosis
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(Orphanet:1980)
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CEDNIK syndrome
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(Orphanet:66631)
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Coffin-Lowry syndrome
|
(Orphanet:192)
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Congenital muscular dystrophy type 1A
|
(Orphanet:258)
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Congenital osteogenesis imperfecta - microcephaly - cataracts
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(Orphanet:2772)
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Craniotelencephalic dysplasia
|
(Orphanet:1528)
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Desmosterolosis
|
(Orphanet:35107)
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Dysplastic cortical hyperostosis
|
(Orphanet:2204)
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Edinburgh malformation syndrome
|
(Orphanet:1895)
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Fraser syndrome
|
(Orphanet:2052)
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Galloway-Mowat syndrome
|
(Orphanet:2065)
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Goldberg-Shprintzen megacolon syndrome
|
(Orphanet:66629)
|
HOLOPROSENCEPHALY 9
|
(OMIM:610829)
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HYDROLETHALUS SYNDROME 1
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(OMIM:236680)
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Hennekam syndrome
|
(Orphanet:2136)
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Holoprosencephaly
|
(Orphanet:2162)
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Holoprosencephaly - radial heart renal anomalies
|
(Orphanet:3186)
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Hydrolethalus
|
(Orphanet:2189)
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Hypertelorism - hypospadias - polysyndactyly syndrome
|
(Orphanet:2211)
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Infantile symmetrical thalamic degeneration
|
(Orphanet:3311)
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Ito hypomelanosis
|
(Orphanet:435)
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Jacobsen syndrome
|
(Orphanet:2308)
|
Joubert syndrome
|
(Orphanet:475)
|
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)
|
Joubert syndrome with renal defect
|
(Orphanet:220497)
|
Kapur-Toriello syndrome
|
(Orphanet:2328)
|
Leber congenital amaurosis
|
(Orphanet:65)
|
Lhermitte-Duclos disease
|
(Orphanet:65285)
|
Limb body wall complex
|
(Orphanet:2369)
|
MELAS
|
(Orphanet:550)
|
Maternal hyperthermia induced birth defects
|
(Orphanet:2216)
|
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
|
(Orphanet:83473)
|
Megalencephaly-capillary malformation-polymicrogyria syndrome
|
(Orphanet:60040)
|
Micro syndrome
|
(Orphanet:2510)
|
Microgastria - limb reduction defect
|
(Orphanet:2538)
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Microlissencephaly - micromelia
|
(Orphanet:50810)
|
Miller-Dieker syndrome
|
(Orphanet:531)
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Neonatal adrenoleukodystrophy
|
(Orphanet:44)
|
Neu-Laxova syndrome
|
(Orphanet:2671)
|
Neurocutaneous melanocytosis
|
(Orphanet:2481)
|
Nijmegen breakage syndrome
|
(Orphanet:647)
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Nodular neuronal heterotopia
|
(Orphanet:2149)
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Oculocerebrocutaneous syndrome
|
(Orphanet:1647)
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
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Osteocraniostenosis
|
(Orphanet:2763)
|
PAGOD syndrome
|
(Orphanet:991)
|
SECKEL SYNDROME 5
|
(OMIM:613823)
|
Short stature - craniofacial anomalies - genital hypoplasia
|
(Orphanet:2994)
|
Splenogonadal fusion - limb defects - micrognathia
|
(Orphanet:2063)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
Syndromic X-linked ichthyosis
|
(Orphanet:281090)
|
Tetrasomy 18p
|
(Orphanet:3307)
|
Thanatophoric dysplasia
|
(Orphanet:2655)
|
Thanatophoric dysplasia type 1
|
(Orphanet:1860)
|
Thanatophoric dysplasia type 2
|
(Orphanet:93274)
|
Vici syndrome
|
(Orphanet:1493)
|
Walker-Warburg syndrome
|
(Orphanet:899)
|
Wolcott-Rallison syndrome
|
(Orphanet:1667)
|
X-linked lissencephaly with abnormal genitalia
|
(Orphanet:452)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|
Zellweger syndrome
|
(Orphanet:912)
|