Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000170.3:c.(?_1927)_(2052_?)del | 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. |
605899.6 | 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. |