ADNP syndrome

Orpha code: 404448OMIM code: 615873

Definicja

A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
Kod ORPHA
404448
Kod OMIM
615873
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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