Phenotype #0000319372
| Individual ID |
00428467 |
| 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); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), delayed myelination, dysmorphic changes of the anterior horns and lateral ventricles, subtle periventricular calcifications; abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality genitourinary system (HP:0000119); frontal bossing (HP:0002007); palpebral fissure, upslanted (HP:0000582); nasal bridge, depressed (HP:0005280); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381); |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
21m |
| 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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