Phenotype #0000158770
| Individual ID |
00210204 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
Mild temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); mild 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); mild narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); Hypertelorism; normal hands; normal feet; Pectus excavatum; Mildly dilated ascending aorta. SVT after near syncopal event.; no genitourinary defects; no feeding difficulties in infancy (-HP:0008872); no gastroesophageal reflux (-HP:0002020); no severe constipation (-HP:0002019); Toilet trained 6y; conductive hearing impairment (HP:0000405); Hemangiomas. Duplicated renal collecting system.; delayed intellectual disability; Delayed speech, 2.5y first words, Problems with articulation; walk-18_24m; seizures x1 associated with UTI; muscular hypotonia (HP:0001252); Schooled in an inclusion class; Bilateral, patchy areas of abnormal white matter, lateral ventricles slightly prominent with coarctation of the frontal horns.; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 39; birth weight 2200 g (~2nd); 3.6y-weight 12.9 kg(~9th), height 99.8 cm (~50th), head circumference 44.1 cm (0.95y), (25-50th) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y (8 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 |
|
