Phenotype #0000223017
| Individual ID |
00289405 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 40w3d, length 47cm (10th-25th), weight 3.033kg (10th-25th), head 32cm (-3SD) at 16d NA (microcephaly); height 104.5cm (~50th), weight 15.3kg (10th-25th), head 44cm (-4SD); prenatal long bones (<-3 SD); congenital microcephaly; jaundice requiring phototherapy; motor delay; walk-19m; speech delay; 2y10m-60 words; no epilepsy; hypertonia; MRI brain 5y-simplified gyri; decreased stranger anxiety; brachycephaly, prominent glabella; dysplastic simple ears with thickened helix; highly arched eyebrows, underdeveloped supraorbital ridges, downslanted narrow palpebral fissures, deeply set eyes; prominent nasal bridge,; flat philtrum; pointed chin; clinodactyly 5th digits bilaterally; normal feet; sensorineural hearing loss; no ophthalmologic abnormality; no cardiovascular abnormality; no respiratory abnormality; no gastrointestinal abnormality; no urogenital abnormality; no skin abnormality; no endocrine abnormality; no sleep disturbance; sacral dimple |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y7m (4 years, 7 months) |
| Age/Diagnosis |
4y7m |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-03-08 16:45:25 +01:00 (CET) |
| Date last edited |
N/A |
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