Phenotype #0000301388
| Individual ID |
00409271 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
congenital disorder of glycosylation, type 1bb |
| Phenotype details |
intra-uterine growth retardation and decreased fetal movements; born at 37 weeks of gestation with a weight of 2090 g (-3.25 SD), a length of 42 cm (-4 SD), an occipitofrontal circumference of 32 cm (-2 SD) and Apgar score 10/10; two episodes of severe bradycardia during the first day of life and was transferred to an intensive care unit; axial hypotonia, peripheral hypertonia, enlarged liver, micropenis and cryptorchidism; transient increase of serum transaminases, renal failure; developed epilepsy; liver sonography: mild dilatation of the biliary duct; little psychomotor acquisitions, no eye contact, poor sucking with frequent regurgitations; failure to thrive; 2 months: fundus: pale papillae, electroretinogram: showed no response to any type of stimulation; brainstem evoked auditory potentials: sensorineural deafness with an auditory threshold of 90 dB (right ear) and 100 dB (left ear); died at 8 months during a status epilepticus |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
8m |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-06 11:05:57 +02:00 (CEST) |
| Date last edited |
N/A |
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