Phenotype #0000359905
| Individual ID |
00475191 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
RATARS |
| Phenotype details |
see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; small palpebral fissures; no upslanting palpebral fissures; no low-set ears; uplifted earlobe; large earlobe; no slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; gingival overgrowth; teeth abnormalities; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; abnormal pyramidal signs; gait imbalance; no hemiparesis; hypoxic ischemic encephalopathy; cardiac features; hypoplastic left heart syndrome; no gastro-intestinal features; no exotropia, no strabismus; myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; shield chest, widely set nipples; feeding/swallowing problems; no neonatal asphyxia; hearing loss; vascular abnormalities; dry skin; edema; precocious puberty; no nail hypoplasia |
| Inheritance |
Unknown |
| Age/Examination |
23y11m (23 years, 11 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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