Phenotype #0000319359
| Individual ID |
00428454 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SBIDDS |
| Phenotype details |
see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild enlargement of the lateral ventricles (more on the right) and third ventricle; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
