Wolf-Hirschhorn syndrome

Orpha code: 280OMIM code: 194190

Definition

A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Disease data
Classification

Malformation syndrome

Synonyms
4p- syndrome
Delecja telomerowa 4p
Dystalna delecja 4p
Dystalna monosomia 4p
Zespół 4p-
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
ORPHA code
280
OMIM code
194190
ICD10 code
Q93.3
ICD11 code
LD44.41

No additional description.

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