Cataract-hypertrichosis-intellectual disability syndrome

Orpha code: 1375OMIM code: 211770

Definition

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
Classification

Malformation syndrome

Synonyms
CAHMR syndrome
Zespół CAHMR
ORPHA code
1375
OMIM code
211770
ICD10 code
Q87.8
ICD11 code
LD27.3

No additional description.

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