Phenotype #0000359930
| Individual ID |
00475217 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder, joint hypermobility |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., 38w-caesarean section (breech presentation); failure to thrive; motor delay; hypotonia (infancy); 18m-sit; 3y6m-walk; speech delay; intellectual disabilit; hand biting, aggressive to siblings; hypotonia; no seizures; joint hypermobility; no limb contractures; no scoliosis; relative macrocephaly, anterior plagiocephaly, triangular face, synophrys, proptosis, midface hypoplasia, anteverted nose, short columella, thin upper lip, thick lower lip, downturned corners of mouth, microstomy, high palate, pectus carinatum; ECG normal; 2y-MRI brain ventriculomegaly, thin corpus callosum, deep sulci, brain atrophy; bilateral developmental hip dysplasia, serous otitis media, sleep apnea |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
5y3m (5 years, 3 months) |
| 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 |
2026-04-04 15:14:06 +02:00 (CEST) |
| Date last edited |
N/A |
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