Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000170.3:c.2512A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
605899.3 | United Arab Emirates | Seizure; Global developmental delay; Severe muscular hypotonia | Female | Yes | Yes | History of neonatal death in family |
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 | |
605899.7 | 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. |