Phenotype #0000326318
| Individual ID |
00436134 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; prominent occiput (HP:0011220); thick eyebrow (HP:0000574); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); no upper eyelid, fullness of (-HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); short philtrum (HP:0000322); thin upper lip vermilion (HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); abnormality outer ear (HP:0000356); synophris; arched eyebrow; wide nasal bridge; uplifted and large earlobe; neonatal hypotonia; feeding difficulties infancy; severe speech delay; mild motor delay; severe learning disabilities; special school; mild intellectual disability (IQ55); no epilepsy; reduced frustration tolerance, short attention span |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
10y (10 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 |
2023-08-16 11:42:32 +02:00 (CEST) |
| Date last edited |
N/A |
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