Phenotype #0000158771
| Individual ID |
00210205 |
| 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); hypoplasia external ear (HP:0008772); mild, asymmetrical narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , small teeth in lower jaw; Mildly adducted thumbs, full passive movement.; Overlapping toes with persistent flexion 3rd toe bilaterally.; ASD, PDA – closed spontaneously.; no genitourinary defects; feeding difficulties in infancy (HP:0008872) , (NG fed); gastroesophageal reflux (HP:0002020); severe constipation (HP:0002019) , improved on treatment; drooling (HP:0002307), improved by hyoscine treatment.; delayed intellectual disability; Delayed speech, <2y first words, 3-4 words at 2y 9m; at 8y able to converse but repetitive and lacks understanding; Development 3y behind at age 8y; sit-13m, walk-2y 3m; possible seizures x1; no muscular hypotonia (-HP:0001252); Report only: normal at 11w; no polyhydramnios (-HP:0001561); mild intrauterine growth retardation (HP:0001511); Increased nuchal translucency; echogenic bowel at 21w; normal amniocentesis; birth gestational age 38; birth weight 1652 g (<0.4th); 12y-weight 31.75 kg(~9th), height 140.6 cm (~10th), head circumference 53.7 cm (~25th) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
9y (9 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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