ARMC9
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 68.8% | 11/16 |
| Female | 31.3% | 5/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 0% | 0/16 |
| Birth Weight abnormalities | 0% | 0/16 |
| Birth Head circumference abnormalities | 0% | 0/16 |
| Current Height abnormalities | 12.5% | 2/16 |
| < P3 : Short stature | 12.5% | 2/16 |
| Current Weight abnormalities | 0% | 0/16 |
| Current Head circumference abnormalities | 0% | 0/16 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 13/13 |
| Global developmental delay | 69.2% | 9/13 |
| Neurodevelopmental abnormality | 23.1% | 3/13 |
| Generalized hypotonia | 15.4% | 2/13 |
| Seizure | 15.4% | 2/13 |
| Absent speech | 7.7% | 1/13 |
| EEG abnormality | 7.7% | 1/13 |
| Oculomotor apraxia | 7.7% | 1/13 |
| Optic nerve hypoplasia | 7.7% | 1/13 |
| Unsteady gait | 7.7% | 1/13 |
| Behavioral problems | 100.0% | 1/1 |
| Borderline | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 13/13 |
| Molar tooth sign on MRI | 100.0% | 13/13 |
| Cerebellar dysplasia | 69.2% | 9/13 |
| Gray matter heterotopia | 30.8% | 4/13 |
| Cerebellar vermis hypoplasia | 23.1% | 3/13 |
| Cerebellar atrophy | 15.4% | 2/13 |
| Abnormal foramen magnum morphology | 7.7% | 1/13 |
| Dandy-Walker malformation | 7.7% | 1/13 |
| Kinked brainstem | 7.7% | 1/13 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 1/1 |
| Low-set ears | 100.0% | 1/1 |
| Abnormality of the eye | 100.0% | 12/12 |
| Ptosis | 58.3% | 7/12 |
| Downslanted palpebral fissures | 25.0% | 3/12 |
| Bilateral ptosis | 16.7% | 2/12 |
| Unilateral ptosis | 16.7% | 2/12 |
| Hypertelorism | 8.3% | 1/12 |
| Abnormality of the nose | 100.0% | 2/2 |
| Depressed nasal bridge | 50.0% | 1/2 |
| Wide nasal bridge | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 3/3 |
| Abnormality of the dentition | 33.3% | 1/3 |
| Bifid uvula | 33.3% | 1/3 |
| High palate | 33.3% | 1/3 |
| Micrognathia | 33.3% | 1/3 |
| Thin upper lip vermilion | 33.3% | 1/3 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 1/1 |
| Mild hearing impairment | 100.0% | 1/1 |
| Abnormal vision | 100.0% | 9/9 |
| Abnormality of eye movement | 100.0% | 9/9 |
| Retinal dystrophy | 22.2% | 2/9 |
| Progressive visual loss | 11.1% | 1/9 |
| Pulmonary | ||
| Abnormality of the lungs | 77.8% | 7/9 |
| Apnea | 77.8% | 7/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 20.0% | 2/10 |
| Gastrostomy tube feeding in infancy | 10.0% | 1/10 |
| Hepatosplenomegaly | 10.0% | 1/10 |
| Urogenital | ||
| Abnormality of the urogenital system | 11.1% | 1/9 |
| Micropenis | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 6/12 |
| Joint hypermobility | 25.0% | 3/12 |
| Short stature | 25.0% | 3/12 |
| Foot polydactyly | 16.7% | 2/12 |
| Pes planus | 16.7% | 2/12 |
| Abnormal skull morphology | 8.3% | 1/12 |
| Clinodactyly | 8.3% | 1/12 |
| Hand polydactyly | 8.3% | 1/12 |
| Postaxial foot polydactyly | 8.3% | 1/12 |
| Tapered finger | 8.3% | 1/12 |
| 2-3 toe syndactyly | 8.3% | 1/12 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 2/2 |
| Decreased response to growth hormone stimulation test | 50.0% | 1/2 |
| Hypothyroidism | 50.0% | 1/2 |