Phenotype #0000326315
| Individual ID |
00436131 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
no neurodevelopmental delay; obesity; hyperphagia; diabetes; no uro-renal anomalies; prominent occiput (HP:0011220); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); 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); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); prominent glabella; no speech delay; no motor delay; mild learning disabilities; middle school; no epilepsy |
| Inheritance |
Unknown |
| Age/Examination |
62y (62 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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