FAM149B1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 4/4 |
| Female | 0% | 0/4 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 2/4 |
| Generalized hypotonia | 25.0% | 1/4 |
| Seizures | 25.0% | 1/4 |
| Brain abnormality | 75.0% | 3/4 |
| Molar tooth sign on MRI | 50.0% | 2/4 |
| Dilation of lateral ventricles | 25.0% | 1/4 |
| Macrocephaly | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 4/4 |
| Strabismus | 100.0% | 4/4 |
| Ptosis | 100.0% | 4/4 |
| Oculomotor apraxia | 100.0% | 4/4 |
| Abnormality of the nose | 25.0% | 1/4 |
| Abnormality of the nose | 25.0% | 1/4 |
| Anteverted nares | 25.0% | 1/4 |
| Highly arched eyebrow | 25.0% | 1/4 |
| Abnormality of the mouth | 50.0% | 2/4 |
| Open mouth | 25.0% | 1/4 |
| Median cleft lip | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal hearing | 25.0% | 1/4 |
| Sensorineural hearing impairment | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 25.0% | 1/4 |
| Abnormal heart morphology | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 4/4 |
| Mesoaxial polydactyly | 25.0% | 1/4 |
| Polydactyly | 50.0% | 2/4 |
| Y-shaped metacarpals | 25.0% | 1/4 |
| Narrow chest | 25.0% | 1/4 |
| Superior pectus carinatum | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 2/4 |
| Abnormality of hair texture | 50.0% | 2/4 |