Phenotype #0000051329
| Individual ID |
00065223 |
| Associated disease |
ID |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, X-linked |
| Phenotype details |
Postnatal growth retardation (HP:0008897), Delayed gross motor development (HP:0002194), Delayed speech and language development (HP:0000750), Oral-pharyngeal dysphagia (HP:0200136), No prominent supraorbital ridges (-HP:0000336), Downslanted palpebral fissures (HP:0000494), No sagging cheeks (-HP:?), Long philtrum (HP:0000343), Low-set ears (HP:0000369), Protruding ears (HP:0000411), No long face (-HP:0000276), High palate (HP:0000218), No pointed chin (-HP:0000307), Anteverted nares (HP:0000463), Hearing impairment (HP:0000365), Chromic otitis media (HP:0000389), Strabismus (HP:0000486), Microcephaly (HP:0000252), Hypoplasia of the corpus callosum (HP:0002079), Generalized hypotonia (HP:0001290), Unusual gluteal crease with sacral caudal remnant and sacral dimple (abnormal sacral segmentation [HP:0008468] and prominent protruding coccyx [HP:0008472]), No joint hypermobility (-HP:0001382), Autistic behaviors (HP:0000729), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Jamie Zeegers |
| Database submission license |
No license selected |
| Created by |
Jamie Zeegers |
| Date created |
2016-05-23 14:08:45 +02:00 (CEST) |
| Date last edited |
2020-05-12 12:33:06 +02:00 (CEST) |
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