Phenotype #0000319366
| Individual ID |
00428461 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SBIDDS |
| Phenotype details |
not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no abnormality genitourinary system (-HP:0000119); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); mouth, narrow (HP:0000160); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, short (HP:0009778); toe, short (HP:0001831); |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| 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 |
2023-01-03 19:34:32 +01:00 (CET) |
| Date last edited |
N/A |
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