| syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening) DEPRECATED | | syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie | | syndroom van osteopenie, myopie, gehoorverlies, mentale retardatie en faciale dysmorfie
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke handicap en faciale dysmorfie
| | Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome | | This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. |
| | Id | 722111004 | | Status | Primitive |
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