Phenotype #0000051410
| Individual ID |
00065295 |
| Associated disease |
MGORS |
| Phenotype details |
short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), low birth weight (HP:0001518), reduced birth lengt (HP:?), birth head circumference (HP:0011451), low weight (HP:0004325), delayed bone age (HP:0002750), frontal bossing (HP:?) or high forehead (HP:0000348), no down-slanted palpebral fissures (-HP:0000494), no 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 (HP:?), pulmonary emphysema (HP:0002097), no laryngomalacia (-HP:0001601), no tracheo-/bronchomalacia (-HP:0002786), feeding problems in infancy (HP:0011968), failure to thrive (HP:0001508), no gastresophageal reflux (-HP:0002020), no abnormal genitalia (-HP:0010460), hypospadias (HP:0000047), cryptorchidism (HP:0000028), no rIncreased/marked lumbar lordosis (HP:0002938) Urethral stenosis/
dysplasia (HP:0008661)enal anomalies (-HP:0000077), |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
- |
| Age/Examination |
17y (17 years) |
| Age/Diagnosis |
00y04m |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Jamie Zeegers |
| Database submission license |
No license selected |
| Created by |
Jamie Zeegers |
| Date created |
2016-05-27 10:51:43 +02:00 (CEST) |
| Date last edited |
2017-01-06 20:19:21 +01:00 (CET) |
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