Phenotype #0000359892
| Individual ID |
00475178 |
| 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; no 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; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; triangular ears, smooth philtrum, small mouth, retrognathia; corpus callosum agenesis, olivary heterotopia; no cardiac features; no congenital heart defects; no gastro-intestinal features; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; normal ribs; no scoliosis, no kyphosis; no edema; no nail hypoplasia; left pulmonary isomerism |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
<0d |
| 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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