Conditions / Genetic
Sifrim-Hitz-Weiss syndrome
info · Genetic
An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygo
An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31.
Signs and symptoms
- Ventriculomegaly
- Intellectual disability
- Micropenis
- Global developmental delay
- Hearing impairment
- Hypotonia
- Macrocephaly
- Hypogonadotropic hypogonadism
- Cryptorchidism
- Tetralogy of Fallot
Also known as: CHD4 Neurodevelopmental Disorder; CHD4-related neurodevelopmental disorder; CHD4-related neurodevelopmental syndrome; SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; SIHIWES