Phenotype #0000325608
| Individual ID |
00435414 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NCFD |
| Phenotype details |
36w-birth, weight 2,200g; postnatal short stature, height 76 cm (-3.85 SD); failure to thrive, weight 10kg (-2.41 SD); microcephaly OFC 44cm (-2.71 SD); failure-to-thrive; severe developmental delay, 2y7m-no head control/no speech; no seizures; EEG generalized abnormality; bitemporal narrowing, prominent forehead; sparse hair, narrow palpebral fissures, prominent overhanging nasal tip, thin lips, retromicrognathia, low-set simple ears; hypoplastic nails; overlapping fingers, hypoplastic nails; nystagmus; cavum septum pellucidum, thin corpus callosum, cerebellar vermian hypoplasia; congenital heart defects, patent ductus arteriosu, atrial septal defect; hydroureteronephrosis, vesicoureteral reflux |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
02y07m (2 years, 7 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 |
2023-07-24 16:04:21 +02:00 (CEST) |
| Date last edited |
N/A |
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