Term Name: nonphotosensitive trichothiodystrophy 9
Synonyms: TTD9
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 homozygous mutation in the MARS1 gene on chromosome 12q13.
Ontology: Human Disease [DOID:0061024]   ( DOID:0061024 )

Relationships
is a type of: autosomal recessive disease nonphotosensitive trichothiodystrophy