Term Name:	progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies
Synonyms:	NEDGSAF
Definition:	A syndrome characterized by dysmorphic facies, delayed motor development with ataxic or spastic gait, impaired intellectual development with absent speech, and poor overall growth, including microcephaly and short stature, that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31.
Ontology:	Human Disease [DOID:0070813]   ( DOID:0070813 )