Phenotype #0000158765
| Individual ID |
00210199 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
sparse scalp hair (HP:0002209); mild long face (HP:0000276); malar flattening (HP:0000272); late-closing wide anterior fontanel (HP:0000260); frontal bossing (HP:0002007); mild periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); no 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); high palate (HP:0000218), bifid uvula; mild mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , small wide-spaced teeth; Long eyelashes; normal hands; normal feet; Vertebral hypoplasia (HP:0008417) , small body of T3; Mild dilatation of ascending aorta (resolved). PDA, prolapse of mitral and tricuspid valves with slight insufficiency.; no genitourinary defects; feeding difficulties in infancy (HP:0008872), NG fed 9 to 1.6y); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , with incontinence; conductive hearing impairment (HP:0000405); Photophobia; mild intellectual disability; Delayed speech; Performance IQ 75, verbal IQ 101 at 3.6y (SON-test); sit-11m, walk-2y, normal coordination; Shy. Pulls hair of other children; Frequent waking at night; no seizures; mild axial muscular hypotonia (HP:0001252); hypertonia (HP:0001276) (legs); Photophobia; Bilateral, abnormal periventricular areas of white matter, most prominent posteriorly.; Tortuosity of internal carotids; polyhydramnios (HP:0001561); intrauterine growth retardation (HP:0001511); birth gestational age 38+2; 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 |
7y (7 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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