Phenotype #0000158761
| Individual ID |
00210195 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
frontal and 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); no low-set ears (-HP:0000369); no hypoplasia external ear (-HP:0008772); narrow palpebral fissures (HP:0045025); downslanted palpebral fissures (HP:0000494); prominent nasal tip (HP:0005274); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); anterior high palate (HP:0000218); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , peg-like front teeth; Hypoplastic alae nasi; Short tapering fingers; Valgus deformity of the feet; Vertebral hypoplasia (HP:0008417) L1; Abnormal thoracic spine (HP:0100711) , thoraco-lumbar kyphosis (non-progressive); Skeletal survey at 2.5y: delayed epiphyseal ossification, particularly carpal bones, pseudo-epiphyses of many metacarpals.; Enlarged aortic root. Diameter at sinus of Valsalva = 4.7cm (Z score ~7.7) at 21y; no genitourinary defects; feeding difficulties in infancy (HP:0008872); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , slowly improved; persistent drooling (HP:0002307), requiring surgery; conductive hearing impairment (HP:0000405); Multiple pigmented naevi on torso.; severe intellectual disability; Absent speech, no first words, Nonverbal; sit-12m, walk-4y, poor coordination; no seizures; muscular hypotonia (HP:0001252); no hypertonia (-HP:0001276); Dilatation of 3rd and 4th ventricles, reduced white matter, thin corpus callosum; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); Mother took mefloquine in first 6w; birth gestational age 40; birth weight 2900 g (~9th); 11y-weight 29.1 kg(~5th), height 129.2 cm (~1st), head circumference 57.7 cm (~97th) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
21y (21 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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