Term Name: nonphotosensitive trichothiodystrophy 8
Synonyms: TTD8
Definition: A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
Ontology: Human Disease [DOID:0061023]   ( DOID:0061023 )

Relationships
is a type of: autosomal recessive disease nonphotosensitive trichothiodystrophy