Phenotype #0000310048
| Individual ID |
00418752 |
| Associated disease |
JBTS |
| Phenotype details |
family history: unremarkable; 27th week of gestation: prenatal ultrasound: enlarged ventricles; invasive prenatal diagnostics: normal male karyotype; birth normal in the 41st week of gestation; growth parameters: normal; episodes of apnea during the first 7 months of life; severe hypotonia, congenital rotatory nystagmus; delay of developmental milestones; 18m: brain magnetic resonance imaging: molar tooth sign and agenesis of corpus callosum; 21m: no evidence of retinal involvement; 3y5m sitting independently; 5y2m: height and weight between the 2nd and 9th percentile, the occipitofrontal head circumference at the 9th percentile; 6y2m months of age: could not stand or walk independently; dysmorphic features: slightly broad forehead, ptosis of the left eye, epicanthus inversus, smooth philtrum, enlarged nares, and thin vermilion of the upper lip; camptodactyly of digits III and V symmetrically in both hands; genitalia small; kidney and liver: normal shape, location and function; atactic movement disorder and trunk hypotonia, no dysphagia; ability to grasp for objects and obey simple commands but no active speech, communicating with simple gestures; ability to maintain good eye contact and has friendly and charming behavior; ability to move the wheelchair by his own manual propulsion to a limited extent; not diaper-free |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
g.95693450T>G |
| Age/Examination |
6y2m (6 years, 2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-10-05 14:44:02 +02:00 (CEST) |
| Date last edited |
N/A |
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