Ataxia - oculomotor apraxia type 1
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(Orphanet:1168)
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Bardet-Biedl syndrome
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(Orphanet:110)
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CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
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(OMIM:601088)
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Corneal anesthesia - deafness - intellectual deficit
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(Orphanet:1051)
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Intellectual deficit, Birk-Barel type
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(Orphanet:166108)
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
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(OMIM:614202)
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Mowat-Wilson syndrome
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(Orphanet:2152)
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STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES
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(OMIM:612948)
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Trisomy 17p
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(Orphanet:261290)
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