Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000170.3:c.919G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605899.4 | United Arab Emirates | Neonatal seizure; Hypotonia; Hypertonia; Thoracolumbar scoliosis; Flexion contracture; Lethargy; Poor suck; Recurrent aspiration pneumonia; Chronic lung disease; Generalized myoclonic-tonic-clonic seizure; Dystonia; Spasticity; Global developmental delay; Increased CSF glycine concentration; Hyperglycinemia | Male | Yes | Yes | Patient has two similarly affected siblings. Benign homozygous variant additionally identified in the patient. |
| 605899.5 | United Arab Emirates | Recurrent singultus; Decreased fetal movement; Caesarian section; Hypotonia; EEG with burst suppression; Agenesis of corpus callosum; Increased CSF glycine concentration; Hyperglycinemia | Male | No | Yes | |
| 605899.6 | United Arab Emirates | Hypotonia; Neonatal seizure; EEG with burst suppression; Hyperglycinemia; Increased CSF glycine concentration; Growth delay; Lethargy; Poor suck; Cleft palate; Agenesis of corpus callosum; Severe global developmental delay; Poor head control | Female | Yes | Yes | Co-twin was miscarried spontaneously at 2 months gestation. Mother had a history of 3 first-trimester miscarriages. |
| 605899.7 | United Arab Emirates | Neonatal seizure; Hypotonia; Neonatal death; Hyperglycinemia; Increased CSF glycine concentration; Lethargy; Feeding difficulties in infancy | Male | Yes | Yes | 1 similarly affected sibling with a similar presentation and neonatal death. |