MN1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 2/4 |
| Female | 50.0% | 2/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| Neurology | ||
| Neurological abnormalities | 66.7% | 2/3 |
| Generalized neonatal hypotonia | 33.3% | 1/3 |
| Intellectual disability | 33.3% | 1/3 |
| Myoclonic spasms | 33.3% | 1/3 |
| Neonatal hypotonia | 33.3% | 1/3 |
| Severe expressive language delay | 33.3% | 1/3 |
| Brain abnormality | 50.0% | 2/4 |
| Perisylvian polymicrogyria | 50.0% | 2/4 |
| Hypertelorism | 25.0% | 1/4 |
| Ventriculomegaly | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 4/4 |
| Low-set ears | 50.0% | 2/4 |
| Abnormal location of ears | 25.0% | 1/4 |
| Abnormality of stem of antihelix | 25.0% | 1/4 |
| Abnormally folded helix | 25.0% | 1/4 |
| Asymmetry of the ears | 25.0% | 1/4 |
| Overfolding of the superior helices | 25.0% | 1/4 |
| Short ear | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 4/4 |
| Congenital ptosis | 50.0% | 2/4 |
| Downslanted palpebral fissures | 50.0% | 2/4 |
| Hypermetropia | 25.0% | 1/4 |
| Hypertelorism | 25.0% | 1/4 |
| Abnormality of the nose | 25.0% | 1/4 |
| Flared nostrils | 25.0% | 1/4 |
| Abnormality of the mouth | 25.0% | 1/4 |
| Gingival overgrowth | 25.0% | 1/4 |
| Mandibular prognathia | 25.0% | 1/4 |
| Misalignment of teeth | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal hearing | 50.0% | 2/4 |
| Cholesteatoma | 25.0% | 1/4 |
| Conductive hearing impairment | 25.0% | 1/4 |
| Infantile sensorineural hearing impairment | 25.0% | 1/4 |
| Unilateral deafness | 25.0% | 1/4 |
| Abnormal vision | 66.7% | 2/3 |
| Amblyopia | 33.3% | 1/3 |
| Hypermetropia | 33.3% | 1/3 |
| Heart | ||
| Abnormality of the heart | 25.0% | 1/4 |
| Subaortic stenosis | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 2/4 |
| Constipation | 25.0% | 1/4 |
| Feeding difficulties | 25.0% | 1/4 |
| Nasogastric tube feeding in infancy | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 1/3 |
| Cryptorchidism | 33.3% | 1/3 |
| Epididymal cyst | 33.3% | 1/3 |
| Hydrocele testis | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 66.7% | 2/3 |
| Narrow greater sacrosciatic notches | 33.3% | 1/3 |
| Pectus excavatum of inferior sternum | 33.3% | 1/3 |
| Posterior scalloping of vertebral bodies | 33.3% | 1/3 |