Males with BRWD3 related condition
To date the condition is fully penetrant in affected males. However the severity of symptoms can vary significantly in a family.
The main clinical features are summarised below:
Intellectual disability
(ID) is present in 100% of affected males. The severity has ranged from mild to moderate.
Behavioural issues/mental health disorders
Some males were reported to have significant behavioural disturbances including temper tantrum, no sense of danger, shyness and reservation with strangers and head banging.
Growth parameters and dysmorphism
Common distinctive features in older male individuals included macrocephaly, long face, pointed chin, distinctive ears which may be dysplastic (underfolded helices common), deep set eyes, high nasal bridge and a high forehead. Some individuals are overweight and overgrowth can be a feature.
Skeletal symptoms
Reported features include scoliosis/kyphosis, pes planus, pectus excavatum, joint laxity, cubitus and genu valgus.
Additional features.
No consistent pattern of extra-neurocognitive symptoms have been reported. One patient with cleft lip and two patients reported to have undescended testes.
Heterozygous females with familial variants
To date have been unaffected.