Phenotype #0000310197
| Individual ID |
00418909 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
MRD62 |
| Phenotype details |
maternal pre-eclampsia with twin pregnancy prompting induction at 34w; birth 34w5d, length 43cm, weight 1786g, OFC 32cm; weight 17.6kg (P4), height 112cm (P11), OFC 49.6cm (P8); delayed motor mevelopment, deficits in motor planning and strengt, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive, speaks in short sentences, difficulty with articulation); no regression; no language regression; no motor regression; mild intellectual disability; no autism; no anxiety; no attention deficit hyperactivity disorder; happy, hypersocial; no abnormal movements; hypotonia; no epilepsy; EEG normal; MRI normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos joint laxity; normal hands/feet; Marfanoid habitus; no heart/aorta defects; reflux, early satiety, vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, restless w/ frequent nighttime awakening; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
6y6m (6 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
10m |
| 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 |
2022-10-13 19:59:42 +02:00 (CEST) |
| Date last edited |
N/A |
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