Phenotype #0000158769
| Individual ID |
00210203 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); no prominent nasal tip (-HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); high palate (HP:0000218); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); Telecanthus; normal hands; normal feet; Pectus carinatum; Orchidopexy for undescended testicle; no feeding difficulties in infancy (-HP:0008872); no gastroesophageal reflux (-HP:0002020); no severe constipation (-HP:0002019); delayed intellectual disability; Delayed speech; sit-15m, walk-2y 2m, normal coordination; no seizures; central muscular hypotonia (HP:0001252); Report only: Irregular gyral pattern, mild cerebellar vermis hypoplasia, enlarged extra-axial spaces.; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 39+4; birth weight 2090 g (<0.4th); 5y3m-weight 16.5 kg(9-25th), height 115 cm (75th-91st), head circumference 49 cm (~1st) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
5y (5 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-12-27 16:19:42 +01:00 (CET) |
| Date last edited |
N/A |
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