THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Orpha code: 363444OMIM code: 613680

Definition

A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.

Disease data
Classification

Malformation syndrome

Synonyms
BBIS
BBIS
Zespół Beaulieu, Boycotta, Innesa
Beaulieu-Boycott-Innes syndrome
ORPHA code
363444
OMIM code
613680
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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