Phenotype #0000359902
| Individual ID |
00475188 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
RATARS |
| Phenotype details |
see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; small 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; bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; protruding central incisors; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; no pointed chin; retrognathia; global developmental delay; moderate intellectual disability; 9m-sit, 17m-walk; delayed fine motor skills; language delay; ADHD; no aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; abnormal pyramidal signs; gait imbalance; no hemiparesis; cardiac features; apical ventrical septal defect; constipation; no exotropia, no strabismus; mild myopia; no coloboma, no microphthalmia; normal iris; abnormal ERG; no brachydactyly; no pectus excavatum; bilateral pes cavus; no camptodactyly; normal toes; no hip dysplasia; genu valgum; normal ribs; scoliosis/kyphosis; clindodactyly; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
20y (20 years) |
| 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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