Phenotype #0000051412
| Individual ID |
00065297 |
| Associated disease |
MGORS |
| Phenotype details |
short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), reduced birth weight (HP:0001518), reduced birth lengt (HP:?), reduced weight (HP:0004325), reduced head circumference (HP:0000252), frontal bossing (HP:?) or high forehead (HP:0000348), no down-slanted palpebral fissures (-HP:0000494), posteriorly rotated ears (HP:0000358), no upturned nose (-HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), motor delay (HP:0001270), speech delay (HP:0000750), developmental assessment IQ= 59 at age 14 years (HP:?), no pulmonary emphysema (-HP:0002097), no laryngomalacia (-HP:0001601), no tracheo-/bronchomalacia (-HP:0002786), feeding problems in infancy (HP:0011968), no failure to thrive (-HP:0001508), no gastresophageal reflux (-HP:0002020), no renal anomalies (HP:0000077
), Increased/marked lumbar lordosis (HP:0002938), bilateral congenital hip subluxation (HP:0030043), strabismus (HP:0000486), cleft palate (palatum molle) (HP:0000175) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
- |
| Age/Examination |
03y04m (3 years, 4 months) |
| Age/Diagnosis |
03y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Jamie Zeegers |
| Database submission license |
No license selected |
| Created by |
Jamie Zeegers |
| Date created |
2016-05-27 11:15:48 +02:00 (CEST) |
| Date last edited |
2017-01-06 20:21:40 +01:00 (CET) |
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