Phenotype #0000359904
| Individual ID |
00475190 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
RATARS |
| Phenotype details |
see paper; ..., no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; mildly bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; dental crowding, prominent central incisors; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; no pointed chin; mild dolicocephaly, long face; global developmental delay; mild intellectual disability (IQ68); delayed gross motor skills; delayed fine motor skills; language delay; unusually happy, giggly, occasional inappropriate laughter; no aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; abnormal pyramidal signs, worsened tremulous and uncontrolled hyperkinetic movements “action tremor-like” ; gait imbalance; no hemiparesis; mild blush consistent, mild periventricular leukoencephalopathy not suggestive of periventricular or germinal matric hemorrhage; no gastro-intestinal features; no exotropia, no strabismus; wears glasses; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; marked kyphosis, no scoliosis; long slender limbs with mild to moderate hypermobility of moderate sized joints, bilateral 5th finger clynodactyly; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; normal skin; no edema; precocious puberty; no nail hypoplasia; diffuse short, vertical, reddish purple striae over posterior calves/thighs/buttocks/low back; no hyperextensibility, no doughy textures, no transluscency |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
18y8m (18 years, 8 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2026-04-03 16:14:32 +02:00 (CEST) |
| Date last edited |
N/A |
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