Phenotype #0000158763
| Individual ID |
00210197 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
temporal sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); short and narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); mild mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , malocclusion; normal hands; Abnormal thoracic spine (HP:0100711) , thoracic kyphosis, lumbar lordosis; PDA (surgically closed); no genitourinary defects; no feeding difficulties in infancy (-HP:0008872); no gastroesophageal reflux (-HP:0002020); constipation (HP:0002019); Not toilet trained; no conductive hearing impairment (-HP:0000405); Sleep apnoae, improved following adeno-tonsillectomy. Pigmented naevi on scalp.; moderate intellectual disability; Delayed speech, Several simple words at 8y; sit-12m, walk-3y, normal coordination; Attention deficit hyperactivity disorder, poor eye contact; Obstructive Sleep apnoea; no seizures; no muscular hypotonia (-HP:0001252); mild diplegia hypertonia (HP:0001276); Bilateral, widespread abnormal white matter, particularly periventricular areas, most severe posteriorly. Bilateral, extensive polymicrogyria.; Tortuosity of internal carotids; polyhydramnios (HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40+4; birth weight 2050 g (<0.4th); 5y3m-weight 15.5 kg(~2nd-9th), height 110 cm (25-50th), head circumference 49 cm (~1st) |
| 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 |
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