Phenotype #0000355430
| Individual ID |
00470281 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
MRD21 |
| Phenotype details |
see paper; ..., intra-uterine growth retardation; birth 33w4d; premature birth; low birth weight (<2500g); microcephaly; motor delay; speech delay; sterotypies, easily frustrated; autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI discrete enlargement of the occipital horns associated with moderate white matter deep posterior periventricular hypersignals; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; GERD; no hearing loss; myopia, astigmatism; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism and phimosis; valgus flat feet, needs orthotics to walk; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; otitits |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
6y (6 years) |
| 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 |
2025-11-30 10:24:36 +01:00 (CET) |
| Date last edited |
N/A |
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