Phenotype #0000243406
| Individual ID |
00324910 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 39w, weight 2900g (-1.0SD) length 47cm (-1.9SD),, OFC 35.5cm (+0.7SD); weight 29kg (+2.0SD), length 99.5cm (-2.0SD), OFC 49cm (0SD); intellectual disability; motor developmental delay; 23m-walk; impaired speech development; impaired receptive language; muscular hypotonia; no autistic features; white matter abnormnailities, thin corpus calosum, arachnoid cysts; no gait abnormalities; attention deficit hyperactivity disorder; febrile seizures; strabism; visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; premature permanent dentition; frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; pulmonary valve stenosis, atrial septal defect; transitory hyperphagia, omega-shaped epiglottis, high tolerance for pain |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
5y6m (5 years, 6 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 |
2020-12-24 16:46:49 +01:00 (CET) |
| Date last edited |
N/A |
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