Phenotype #0000254894
| Individual ID |
00359621 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 40w, weight 2500g (3-10th centile), length 49cm (42nd centile); neonatal hypoglycemia, tachypnea (birth), admitted to NICU for 1m; weight 52.7kg 9y2m (>97th centile), length 137cm 9y2m (75th centile), OFC 51cm 9y 2m (50th centile); accessory band across left ventricle heart, horseshoe kidney, anterior ectopic anus; moderate hypotonia; moderate intellectual disability; normal vision; bilateral hearing loss, wears aids; no seizures; MRI-brain thinning posterior body corpus callosum, non-specific abnormal signal genu corpus callosum, ventriculomegaly; prominent, straight and dark eyebrows with synophrys; long palpebral fissures with lateral extension, epicanthus inversus, long dark eyelashes, striking blue irides; short nose with small nares, hypoplastic alae nasi, narrow base, high nasal bridge; mid-face hypoplasia; normal mouth; low-set large ears with long fleshy lobes; short neck; hirsutism on back, fibro-fatty deposition lateral dorsal aspect torso with thickened overlying skin ; significant cutaneous syndactyly of 2-3 toes, brachydactyly, tapering fingers; nasal voice with some articulation difficulties, marked truncal obesity |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
9y2m (9 years, 2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
3y10m |
| 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 |
2021-04-02 17:28:47 +02:00 (CEST) |
| Date last edited |
N/A |
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