Congenital brain dysgenesis due to glutamine synthetase deficiency
- Synonyms
- GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC; Glutamine deficiency, congenital; Glutamine synthetase deficiency, congenital systemic
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Thin vermilion border
Thin vermilion border
- MedGen UID: 108294
- Concept ID: C0578038
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Micromelia
Micromelia
- MedGen UID: 10031
- Concept ID: C0025995
- Finding: Congenital Abnormality
Abnormality of limbs
- Micromelia
- Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hypoglutaminemia
Hypoglutaminemia
- MedGen UID: 1671003
- Concept ID: C4732901
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperammonemia
- Abnormality of the cardiovascular system
- Bradycardia
Bradycardia
- MedGen UID: 140901
- Concept ID: C0428977
- Finding: Finding
Abnormality of the cardiovascular system
- Bradycardia
- Abnormality of the integument
- Erythema
Erythema
- MedGen UID: 11999
- Concept ID: C0041834
- Finding: Disease or Syndrome
Abnormality of the integument
- Erythema
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Brain atrophy
Brain atrophy
- MedGen UID: 1643639
- Concept ID: C4551584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Decreased CSF glutamine concentration
Decreased CSF glutamine concentration
- MedGen UID: 1707750
- Concept ID: C5139583
- Finding: Finding
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Lateral ventricle dilatation
Lateral ventricle dilatation
- MedGen UID: 383904
- Concept ID: C1856409
- Finding: Pathologic Function
Abnormality of the nervous system
- Lower limb hyperreflexia
Lower limb hyperreflexia
- MedGen UID: 322973
- Concept ID: C1836696
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Subependymal cysts
Subependymal cysts
- MedGen UID: 318876
- Concept ID: C1833431
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Brain atrophy
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Apnea
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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