Conditions / Syndrome
NFIA-related disorder
info · Syndrome · ICD-10: Q93.5
A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
Signs and symptoms
- Upslanted palpebral fissure
- Anteverted nares
- Hypotonia
- Delayed fine motor development
- Failure to thrive
- Ventriculomegaly
- Macrocephaly
- Overfolded helix
- Hypoplasia of the corpus callosum
- Global developmental delay
Also known as: 1p31p32 microdeletion syndrome; Chromosome 1, Monosomy 1p32; brain malformations with or without urinary tract defects; chromosome 1p32-p31 deletion syndrome