MedGen

Nonphotosensitive trichothiodystrophy-9 (TTD9) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation (Botta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675). [from OMIM]

Autosomal recessive spastic paraplegia-70 (SPG70) is characterized by onset of symptoms in infancy, including delayed walking and difficulties walking due to spasticity of the lower limbs; upper limbs may also be involved. Additional features may include global developmental delay with variably impaired intellectual development, speech delay, feeding difficulties, and dysmorphic facial features (Okamoto et al., 2022). [from OMIM]

Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015). [from OMIM]

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [from MONDO]