Phenotype #0000158762
| Individual ID |
00210196 |
| 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); mild 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); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); high palate (HP:0000218); mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , malocclusion; Long narrow hands and fingers.; Valgus deformity of feet; Vertebral hypoplasia (HP:0008417) , normal spine x-rays; Mild dilatation of left ventricle. Mild aortic valve regurgitation. Aortic root at sinus of valsalva 2.5cm (Z=-0.29); no genitourinary defects; feeding difficulties in infancy (HP:0008872); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , requiring ACE procedure at age 12 years; no drooling (-HP:0002307); conductive hearing impairment (HP:0000405); Morgagni hernia of diaphragm detected as incidental finding on cardiac MRI scan. Asymptomatic; moderate intellectual disability; Delayed speech, <2y first words, 15 words at 2y; sit-12m, walk-2y, normal coordination; No problems; no seizures; no muscular hypotonia (-HP:0001252); no hypertonia (-HP:0001276); Report only: normal; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); Mum took sodium valproate during pregnancy; birth gestational age 42; birth weight 3340 g (25-50th); 17y-weight 50.9 kg(~20th), height 175.9 cm (~97th), head circumference 51.5 cm (~0.4th) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
17y (17 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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