Phenotype #0000319338
| Individual ID |
00428433 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SBIDDS |
| Phenotype details |
no intra-uterine growth retardation (-HP:0001511); failure to thrive (HP:0001508); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); hypotonia (HP:0001252); abnormality eye (HP:0000478); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); nasal bridge, prominent (HP:0000426); nose, short (HP:0003196); philtrum, short (HP:0000322); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thin (HP:0000219); clinodactyly (HP:0030084); syndactyly/ webbing of the fingers (HP:0001159); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743); |
| 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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