Table 1 Summary of phenotypes found in this cohort of probands with CHD3 mutations
Amount | Percentage | |
|---|---|---|
Development | ||
ID/DD | 35/35 | 100% |
Degree of ID/DD | ||
Borderline ID | 3/35 | 9% |
Mild or mild–moderate ID | 9/35 | 26% |
Moderate or moderate–severe ID | 8/35 | 23% |
Severe ID | 7/35 | 20% |
DD/level unknown | 8/35 | 23% |
Speech delay/disorder | 33/33 | 100% |
Autism or autism-like features | 9/31 | 29% |
Neurology | ||
Hypotonia | 21/28 | 75% |
Macrocephaly | 19/33 | 58% |
Widened CSF spaces (MRI) | 10/30 | 33% |
Neonatal feeding problems | 10/32 | 31% |
Dysmorphisms | ||
High, broad, and/or prominent forehead | 28/33 | 85% |
Widely spaced eyes | 24/31 | 77% |
Other | ||
Joint laxity (generalized and/or local) | 12/30 | 40% |
Vision problems | ||
Hypermetropia | 11/29 | 38% |
Strabism | 10/33 | 30% |
Cerebral visual impairment | 3/33 | 9% |
Genital abnormalities in males | 6/17 | 35% |
Hernia (inguinal, umbilical, hiatal) | 5/28 | 18% |
