Phenotype #0000210493
| Individual ID |
00275894 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; no walking yet; fine motor delay; first words-1y6m; speech 3-4 words; received speech/language therapy; expressive speech delay. Receptive speech appears normal; developmental delay; no autism/autistic features; bruxism; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain subgaleal hematoma, no other abnormalities; no wide CSF spaces; hypotonia; no epilepsy, no seizures; normal; normal forehead; widely spaced eyes; missing maxillary lateral incisors; normal palate; neonatal cephalohematoma; congenital entropion; conductive hearing loss; normal heart; normal kidneys; left testis initially undescended, now retractile. webbing between penis and scrotum; no hernias; no skeletal anomalies, no joint anomalies; Sleep apnea. non-pitting edema in feet |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
2y3m (2 years, 3 months) |
| Age/Diagnosis |
- |
| 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 |
2020-01-20 21:55:37 +01:00 (CET) |
| Date last edited |
N/A |
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