Phenotype #0000210516
| Individual ID |
00275917 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-1y8m; fine motor delay; first words-13m; speech short sentences; received speech/language therapy; No specific speech or language problems; Mild-Moderate intellectual disability; no autism/autistic features; short attention span; friendly, good social behaviour; normal weight; height >+2.5 SD; macrocephaly; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; arched palate; no neonatal issues; strabism; normal hearing; normal heart; normal kidneys; no male genital abnormalities; umbilical hernia (neonatal period); no skeletal anomalies, no joint anomalies; wide mamillary distance, increased sweating |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y6m (3 years, 6 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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