From: A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree
Current study | Previous studies | |||||
---|---|---|---|---|---|---|
The proband (II-3) | Her mother (I-2) | Her younger brother (II-5) | Her elder son (III-2) | Her younger son (III-3) | ||
Gender | ||||||
Female | Yes | Yes | No | No | No | 7 (70%) |
NRAS gene deleted | No | No | No | No | No | 10 (100%) |
Short stature | No | No | No | No | No | 5 (50%) |
Facial appearance | 6 (60%) | |||||
Full eyebrows | Yes | NP | NP | Yes | Yes | 1 (10%) |
Hypertelorism | Yes | NP | NP | Yes | Yes | 2 (20%) |
Ptosis | Yes | NP | NP | Yes | Yes | 2 (20%) |
Low-set ears | Yes | NP | NP | Yes | Yes | 3 (30%) |
Upturned nose | Yes | NP | NP | Yes | Yes | 1 (10%) |
Overbite | Yes | NP | NP | Yes | Yes | 0 |
Open mouth | Yes | NP | NP | Yes | Yes | 1 (10%) |
Neck abnormality | Yes | NP | NP | Yes | Yes | 5 (50%) |
Neurodevelopmental disorder | ||||||
Intellectual disability | Yes | Yes | Yes | Yes | Yes | 9 (90%) |
Language impairments | Yes | Yes | Yes | Yes | Yes | 8 (80%) |
Gross motor developmental delay | Unknown* | Unknown* | Unknown* | Unknown* | Unknown* | 8 (80%) |
Epilepsy | No | No | No | No | No | 2 (20%) |
Behavioral problems | No | No | No | No | No | 1 (10%) |