Phenotype #0000326317
| Individual ID |
00436133 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
onset toddler; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); no thick eyebrow (-HP:0000574); no 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); no depressed nasal bridge (-HP:0005280); no wide nose (-HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); no broad philtrum (-HP:0000289); short philtrum (HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); arched eyebrow; wide nasal bridge; neonatal hypotonia; feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; preschool; no intellectual disability; no epilepsy; emotional dysregulation, sensory seeking and/or attention seeking behaviors like hitting head, temper tantrums, aggressive behavior with tantrums, high risk for elopement, difficulty with sound pronunciation, possible processing difficulty, challenges with conversation and reciprocal exchanges, fine motor delays |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y (4 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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