Phenotype #0000325607
| Individual ID |
00435413 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NCFD |
| Phenotype details |
intrauterine growth retardation, tetralogy of Fallot; 40w-birth, weight 2,200g (-2.71 SD), length 48 cm (-0.65 SD), OFC 32 cm (−1.9 SD); postnatal short stature, height 112.5cm (-3.49 SD); failure to thrive, weight 16kg (-7.03 SD); OFC 51 cm (-0.68 SD); failure-to-thrive; severe developmental delay, 9y-no walking, 9y-speech one word; no seizures; EEG abnormal findings consistent with generalized epileptogenic discharge of left side origin; bitemporal narrowing, prominent forehead; sparse hair, narrow palpebral fissures, prominent overhanging nasal tip, thin lips, retromicrognathia; synpolydactyly with additional hypoplastic ray between fourth and fifth digits, all extremities are affected, X-ray showed duplication middle and terminal phalanges right fifth finger and duplication terminal phalanx left fifth finger and extra hypoplastic metatarsal and extra phalanx between fourth and fifth toes; Pallor optic disc, postvisual pathway dysfunction; moderate loss of hearing in high frequency range; cerebellar vermian hypoplasia, Frontal underdevelopment; Tetralogy of Fallot; no renal problems; no GIT; no respiratory problems |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
09y (9 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 |
2023-07-24 16:01:25 +02:00 (CEST) |
| Date last edited |
N/A |
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