17q12 microdeletion syndrome
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(Orphanet:261265)
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1q21.1 microdeletion syndrome
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(Orphanet:250989)
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3q29 microdeletion syndrome
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(Orphanet:65286)
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3q29 microduplication
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(Orphanet:251038)
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ALOPECIA-MENTAL RETARDATION SYNDROME 2
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(OMIM:610422)
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Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
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(Orphanet:98791)
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Arginine:glycine amidinotransferase deficiency
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(Orphanet:35704)
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Autosomal recessive limb-girdle muscular dystrophy type 2K
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(Orphanet:86812)
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Autosomal recessive spastic paraplegia type 26
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(Orphanet:101006)
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Autosomal recessive spastic paraplegia type 46
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(Orphanet:320391)
|
CARDIOFACIOCUTANEOUS SYNDROME 1
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(OMIM:115150)
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CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION
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(OMIM:300619)
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FRAXE intellectual deficit
|
(Orphanet:100973)
|
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES
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(OMIM:614684)
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HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES
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(OMIM:609943)
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Hemihypertrophy
|
(Orphanet:2128)
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Hypomyelination - congenital cataract
|
(Orphanet:85163)
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Infantile onset spinocerebellar ataxia
|
(Orphanet:1186)
|
Joubert syndrome 9
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(OMIM:612285)
|
LUJAN-FRYNS SYNDROME
|
(OMIM:309520)
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Lhermitte-Duclos disease
|
(Orphanet:65285)
|
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES
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(OMIM:613670)
|
MENTAL RETARDATION, X-LINKED 96
|
(OMIM:300802)
|
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
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(OMIM:604804)
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MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
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(OMIM:604321)
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Marinesco-Sjögren syndrome
|
(Orphanet:559)
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Prader-Willi syndrome
|
(Orphanet:739)
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Progeria - short stature - pigmented nevi
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(Orphanet:2959)
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Proteus-like syndrome
|
(Orphanet:2969)
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SCARF syndrome
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(Orphanet:3134)
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Spondyloepiphyseal dysplasia tarda, Kohn type
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(Orphanet:163665)
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X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
|
(Orphanet:85295)
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X-linked intellectual disability-retinitis pigmentosa syndrome
|
(Orphanet:85332)
|