Congenital cataracts-facial dysmorphism-neuropathy syndrome

Orpha code: 48431OMIM code: 604168

Definition

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

Disease data

Classification

Malformation syndrome

Synonyms

CCFDN

ORPHA code

48431

OMIM code

604168

ICD10 code

Q87.8

ICD11 code

*Soruce

No additional description.

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Description of the disease *