| c.3742 C > T p.(Gln1248*) |
No significant features |
Developmental delay, substantial language delay, limited expressive communication skills, intellectual disability |
| c.5737delGp. fs.15.p.(Gln1913*) |
Upslanting palpebral fissures, small ears, high nasal bridge, thin upper lip, tapering fingers and radial deviation, hirsutism |
Developmental delay, slurred speech, hypotonia, intellectual disability |
| c.C3556T p.(Gln1186*) |
High forehead, widely spaced eyes, broad nasal root, small mouth |
Developmental delay, language–unavailable, hypotonia, intellectual disability |
| c.C2827T p.(Gln943*) |
Wide set eyes, broad nasal root and upturned nose, high arched palate |
Developmental delay, language age equivalent to 15 mo, hypotonia, autism–unavailable, intellectual disability |
| c.G6475T p.(Gln2159*) |
Mild retrognathia |
Developmental delay, short sentences in speech, hypotonia, borderline intellectual disability, sensory disorder (processing), seizures |
| c.G2857T p.(Gln953*) |
Elongated and narrow face |
Developmental delay, no verbal speech, hypotonia, autism, intellectual disability, seizures |
| c.5614dupG fs.16p.(GIn1872*) |
Low anterior hairline, epicanthal folds, dental crowding |
Developmental delay, no verbal speech, hypotonia, autism, intellectual disability, seizures |
| c.G1189T p.(Gln397*) |
Small hands and feet |
Developmental delay, language limited to three words, hypotonia, intellectual disability–unavailable |
| c.6625dup fs.p.(Gln2209*) |
High nasal bridge, broad mouth, flat philtrum, sacral dimple, finger webbing |
Developmental delay, language–full sentences but difficult to understand, hypotonia, no autism, intellectual disability |
| c.3434delC fs.p.(Gln1145*) |
Square face, broad forehead, strabismus, high nasal bridge, small ears, small teeth, microretrognathia |
Developmental delay, language limited to sentences with three to four words, no autism, intellectual disability |
