Phenotype #0000304333
| Individual ID |
00412328 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth 41w+2, weight 3570 g (−0.41 SD), length 50 cm (−1.37 SD), OFC 34 cm (−1.47 SD); length 121 cm (−3.10 SD), weight 19.6 kg (−4.01 SD), OFC 48 cm (−3.58 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); severe intellectul disability (HP:0010864); no hyperactivity (-HP:0000752); short attention span (HP:0000736); sleep disturbance (HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); no strabismus (-HP:0000486); 2–3 toe cutaneous syndactyly (HP:0005709); high palate (HP:0000218); hypoplasia of the cerebellar vermis (HP:0006817); hypoplasia of the corpus callosum (HP:0002079); delayed myelination (HP:0012448); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
9y7m (9 years, 7 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 |
2022-06-27 16:46:36 +02:00 (CEST) |
| Date last edited |
N/A |
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