Phenotype #0000041571
| Individual ID |
00054904 |
| Associated disease |
ID |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Phenotype details |
decelerations, resuscitation; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); bifid uvula; thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); synophrys (HP:0000664); hypertelorism (HP:0000316); sacral dimple (HP:0000960); hirsutism (HP:0001007); chromic otitis media (HP:0000389); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); generalized hypotonia (HP:0001290); clubfeet; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); talipes cavus equinovarus (HP:0004696); spasticity (HP:0001257); short digit (HP:0011927); short neck (HP:0000470); secundum ASD at birth, enlarged ascending aorta and MPA; intellectual disability (HP:0001249); low set nipples, short stature; not present -HP:0000389; post dates, birth 42w, weight 2840, height 50.8 |
| Age/Examination |
09y (9 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2015-12-07 12:50:28 +01:00 (CET) |
| Date last edited |
2020-05-12 12:33:06 +02:00 (CEST) |
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