Phenotype #0000231393
| Individual ID |
00305544 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 39w, weight 2693 (normal); height 88.9 (-5 SD), weight 13.3 (-4 SD), OFC 48.3 (normal); severe intellectual disability; developmental delay; motor delay; speech delay; NA (absent speech); epilepsy, generalized convulsive, intractable; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Patent foramen ovale ; Hydronephrosis, neurogenic bladder, VU reflux; GERD, neurogenic bowel; G-tube dependent; Trach and ventilator dependent secondary to chronic respiratory failure, OSA; no immunological abnormalities; Hypothyroidism; no skeletal, muscle and soft tissue abnormalities; Bilateral hearing loss; Cortical blindness, myopia; no ectodermal abnormalities; small, tapered fingers, 2nd toe overlaps 3rd, R-side: 3rd overlaps 4th; MRI-brain no holoprosencephaly, Dandy walker, cerebellar vermis hypoplasia, enlarged posterior fossa + expanded 4th ventricle, hypoplasia of brainstem. Generalized supratentorial white/grey volume loss (white and gray), thinning + elevation of corpus callosum. Stable findings. |
| Inheritance |
Isolated (sporadic) |
| 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 |
2020-06-28 10:52:31 +02:00 (CEST) |
| Date last edited |
N/A |
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