Phenotype #0000158767
| Individual ID |
00210201 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
sparse scalp hair (HP:0002209); long face (HP:0000276); malar flattening (HP:0000272); mild frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); mild 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); mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); abnormal dentition (HP:0000164) , dental crowding; Skull & face asymmetry; normal hands; normal feet; Pectus excavatum; ASD, PDA; no genitourinary defects; feeding difficulties in infancy (HP:0008872) , (NG fed); gastroesophageal reflux (HP:0002020); no severe constipation (-HP:0002019); Feeding improved post-adenoidectomy; conductive hearing impairment (HP:0000405); Transient corneal opacities; delayed intellectual disability; Delayed speech, Short sentences, dysarthric; Good memory, knows many songs, counts to 10, uses tablet,; walk-4.5y, stumbles easily, can draw but out of line,; Communicative and attentive; Sleep disorder requiring medication.; nocturnal, generalized, lamotrigine responsive seizures; muscular hypotonia (HP:0001252); Bilateral, patchy areas of abnormal white matter.; polyhydramnios (HP:0001561); intrauterine growth retardation (HP:0001511); birth gestational age 38; 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 |
10y (10 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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