SRRM2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 64.0% | 16/25 |
| Female | 36.0% | 9/25 |
| Indifferent | 0% | 0/25 |
| Unknown | 0% | 0/25 |
| General | ||
| Birth Length abnormalities | 4.0% | 1/25 |
| < P3 : Birth length less than 3rd percentile | 4.0% | 1/25 |
| Birth Weight abnormalities | 4.0% | 1/25 |
| < P3 : Small for gestational age | 4.0% | 1/25 |
| Birth Head circumference abnormalities | 4.0% | 1/25 |
| < P3 : Primary microcephaly | 4.0% | 1/25 |
| Current Height abnormalities | 24.0% | 6/25 |
| > P98 : Tall stature | 24.0% | 6/25 |
| Current Weight abnormalities | 52.0% | 13/25 |
| > P98 : Increased body weight | 48.0% | 12/25 |
| < P3 : Decreased body weight | 4.0% | 1/25 |
| Current Head circumference abnormalities | 20.0% | 5/25 |
| > P98 : Macrocephaly | 12.0% | 3/25 |
| < P3 : Microcephaly | 8.0% | 2/25 |
| Neurology | ||
| Neurological abnormalities | 83.3% | 20/24 |
| Generalized hypotonia | 45.8% | 11/24 |
| obsolete Poor motor coordination | 33.3% | 8/24 |
| Complex febrile seizure | 12.5% | 3/24 |
| Fatigue | 8.3% | 2/24 |
| Neonatal hypotonia | 8.3% | 2/24 |
| Seizure | 8.3% | 2/24 |
| Ataxia | 4.2% | 1/24 |
| Broad-based gait | 4.2% | 1/24 |
| Dysarthria | 4.2% | 1/24 |
| Dyslexia | 4.2% | 1/24 |
| Febrile seizure (within the age range of 3 months to 6 years) | 4.2% | 1/24 |
| Muscle spasm | 4.2% | 1/24 |
| Behavioral problems | 83.3% | 20/24 |
| Autistic behavior | 41.7% | 10/24 |
| Attention deficit hyperactivity disorder | 33.3% | 8/24 |
| Overfriendliness | 33.3% | 8/24 |
| Anxiety | 12.5% | 3/24 |
| Abnormal eating behavior | 8.3% | 2/24 |
| Emotional lability | 4.2% | 1/24 |
| Brain abnormality | 22.2% | 4/18 |
| Abnormal cerebral white matter morphology | 11.1% | 2/18 |
| Cerebral atrophy | 5.6% | 1/18 |
| Encephalopathy | 5.6% | 1/18 |
| Seizure | 5.6% | 1/18 |
| Status epilepticus | 5.6% | 1/18 |
| Ventriculomegaly | 5.6% | 1/18 |
| Facial abnormalities | ||
| Abnormality of the ear | 57.1% | 12/21 |
| Large fleshy ears | 28.6% | 6/21 |
| obsolete Low-set, posteriorly rotated ears | 19.0% | 4/21 |
| Overfolded helix | 9.5% | 2/21 |
| Anteverted ears | 4.8% | 1/21 |
| Abnormality of the eye | 66.7% | 14/21 |
| Deeply set eye | 38.1% | 8/21 |
| Strabismus | 14.3% | 3/21 |
| Upslanted palpebral fissure | 14.3% | 3/21 |
| Downslanted palpebral fissures | 9.5% | 2/21 |
| Hypertelorism | 9.5% | 2/21 |
| Epicanthus | 4.8% | 1/21 |
| Esotropia | 4.8% | 1/21 |
| Periorbital fullness | 4.8% | 1/21 |
| Prominent supraorbital ridges | 4.8% | 1/21 |
| Abnormality of the nose | 42.9% | 9/21 |
| Broad nasal tip | 19.0% | 4/21 |
| Bulbous nose | 9.5% | 2/21 |
| Wide nasal bridge | 9.5% | 2/21 |
| Anteverted nares | 4.8% | 1/21 |
| Low hanging columella | 4.8% | 1/21 |
| Prominent nose | 4.8% | 1/21 |
| Underdeveloped nasal alae | 4.8% | 1/21 |
| Abnormality of the mouth | 68.2% | 15/22 |
| Thin upper lip vermilion | 27.3% | 6/22 |
| Wide mouth | 27.3% | 6/22 |
| Everted lower lip vermilion | 4.5% | 1/22 |
| High palate | 4.5% | 1/22 |
| Macrodontia of permanent maxillary central incisor | 4.5% | 1/22 |
| Smooth philtrum | 4.5% | 1/22 |
| Thick lower lip vermilion | 4.5% | 1/22 |
| Visual and hearing impairments | ||
| Abnormal vision | 31.8% | 7/22 |
| Strabismus | 22.7% | 5/22 |
| Hypermetropia | 9.1% | 2/22 |
| Astigmatism | 4.5% | 1/22 |
| Esotropia | 4.5% | 1/22 |
| Hyperopic astigmatism | 4.5% | 1/22 |
| Paroxysmal involuntary eye movements | 4.5% | 1/22 |
| Heart | ||
| Abnormality of the heart | 4.5% | 1/22 |
| Tetralogy of Fallot | 4.5% | 1/22 |
| Pulmonary | ||
| Abnormality of the lungs | 4.3% | 1/23 |
| Interstitial pneumonitis | 4.3% | 1/23 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 8.7% | 2/23 |
| Chronic constipation | 8.7% | 2/23 |
| Urogenital | ||
| Abnormality of the urogenital system | 13.6% | 3/22 |
| Micropenis | 4.5% | 1/22 |
| Phimosis | 4.5% | 1/22 |
| Unilateral renal hypoplasia | 4.5% | 1/22 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 12/24 |
| Short finger | 29.2% | 7/24 |
| Short toe | 29.2% | 7/24 |
| Pes planus | 12.5% | 3/24 |
| Broad thumb | 4.2% | 1/24 |
| Broad hallux | 4.2% | 1/24 |
| Scoliosis | 4.2% | 1/24 |
| Talipes cavus equinovarus | 4.2% | 1/24 |
| Talipes valgus | 4.2% | 1/24 |
| Thoracic hemivertebrae | 4.2% | 1/24 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 4.5% | 1/22 |
| Acanthosis nigricans | 4.5% | 1/22 |
| obsolete Hyperkeratosis pilaris | 4.5% | 1/22 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Diabetes mellitus | 100.0% | 1/1 |
| Hypothyroidism | 100.0% | 1/1 |
| Abnormality of the immune system | 100.0% | 1/1 |
| Decreased circulating IgA concentration | 100.0% | 1/1 |