Conditions / Syndrome
nonphotosensitive trichothiodystrophy 9
info · Syndrome
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 chrom
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.
Signs and symptoms
- Epicanthus
- Brachydactyly
- Joint hypermobility
- Global developmental delay
- Ataxia
- Tiger tail banding
- Sparse eyebrow
- Sparse hair
- Ichthyosis
- Keratosis pilaris
Also known as: TTD9