Phenotype #0000078844
| Individual ID |
00039409 |
| Associated disease |
CVI |
| Phenotype details |
see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; deeply set eyes; blepharaophymosis; abnormal ears; no preauricular pits; bulbous nose; no anteverted nares; no flat philtrum; full lips; no small mouth; no furrowed tongue; abnormal teeth; broad alveolar ridges; high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
NEDBEH |
| Age/Examination |
12y08m (12 years, 8 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2017-03-06 08:40:51 +01:00 (CET) |
| Date last edited |
2022-08-25 16:35:13 +02:00 (CEST) |
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