Phenotype #0000319351
| Individual ID |
00428446 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SBIDDS |
| Phenotype details |
no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); no abnormality face (-HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); no hypotonia (-HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); epicanthus (HP:0000286); eyes, widely spaced (HP:0000316); columella, low hanging (HP:0009765); nose, short (HP:0003196); finger, short (HP:0009381); finger, tapered (HP:0001182); nail, narrow (HP:0011313); |
| 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
