Phenotype #0000158768
| Individual ID |
00210202 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
nolong face (-HP:0000276); mild malar flattening (HP:0000272); mild frontal bossing (HP:0002007); mild periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); mild narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); prominent nasal tip (HP:0005274); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); Exotropia; Flat thenar eminences; Right ankle pronation, mild clinodactyly of the toes; Abnormal thoracic spine (HP:0100711) , right thoracic neuromuscular scoliosis; Long torso; Aortic root and ascending aorta mildly dilated.; no genitourinary defects; feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); severe constipation (HP:0002019); Numerous food aversions and allergies; Unexplained episodes of metabolic acidosis, hypoglycemia, mild dehydration, multiple food allergies.; delayed intellectual disability; Absent speech, no first words, Nonverbal, uses gestures, signs, and tablet; Age 6y 2m: grasp equivalent to 20m level, visual motor integration at 17m level; sit-11m, walk-3y 3m, variable gait pattern, cannot jump; Autism spectrum disorder; no seizures; muscular hypotonia (HP:0001252); Tactile sensitivity; Bilateral, patchy areas of abnormal white matter, prominent perivascular spaces in corpus callosum.; Tortuous carotid and vertebral arteries.; polyhydramnios (HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40+3; birth weight 2050 g (<0.4th); 5y3m-weight 15.5 kg(~2nd-9th), height 110 cm (25-50th), head circumference 49 cm (~1st) |
| 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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