Phenotype #0000310198
| Individual ID |
00418910 |
| 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 48cm, weight 2551g, OFC 33cm; weight 19.3kg (P23), height 113cm (P18), OFC 51cm (P35); delayed motor mevelopment, deficits in motor planning and strength, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive); no regression; no language regression; no motor regression; mild intellectual disability; no autism; separation anxiety, especially with change in environment; no attention deficit hyperactivity disorder; no abnormal movements; hypotonia; no epilepsy; EEG normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos; normal hands/feet; Marfanoid habitus; no heart/aorta defects; feeding difficulties when younger; 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 |
9m |
| 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
