Phenotype #0000210512
| Individual ID |
00275913 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-2y; fine motor delay; no first words yet; speech no words currently, vowel sounds/babbling; received speech/language therapy; Expressive language more impaired than expressive language, can follow simple instructions; developmental delay; no autism/autistic features; no ADHD/ADD; very happy, social personality; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; no; high forehead with frontal bossing; widely spaced eyes; enamel hypoplasia; normal palate; neonatal respiratory distress, had to be resuscitated, in NICU for 2d; vision slight refractive error, exotropia; normal hearing; normal heart; normal kidneys; Undescended testes, hypospadias,"hidden penis"; inguinal hernia; joint hyperlaxity, wears ankle foot orthoses; abnormal bladder shape on MRI |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
2y8m (2 years, 8 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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