View phenotype #0000000168

Individual ID 00000164
Associated disease AI unclassified
Phenotype details Normal thickness of scalp hair at birth but easy to pluck, progressive hair loss and thinning started at ages 10–12 years. All had sparse eyebrows and eyelashes, and early-onset skin aging with deeply set facial wrinkles, progeroid appearance. Poor speech, memory, aggressive and/or lacked the concept of danger or fear. Mild-to-moderate intellectual disability (IQ 53–61). Dental plaques, calculi and gingival recession - one had no teeth others had yellowish-brown tooth stains. The lateral maxillary incisors of one were super-erupted and protruded anteriorly. For another, alignment of maxillary teeth was normal, but the mandibular incisors and canines were badly aligned and had rough enamel surfaces.
Inheritance Familial, autosomal recessive
Owner name Claire Smith