Cataract-hypertrichosis-intellectual disability syndrome

Orpha code: 1375OMIM code: 211770

Definicja

Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
CAHMR syndrome
Zespół CAHMR
Kod ORPHA
1375
Kod OMIM
211770
Kod ICD10
Q87.8
Kod ICD11
LD27.3

No additional description.

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