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 |
|
