Congenital disorder of glycosylation, type IAA
- Synonyms
- Congenital disorder of glycosylation, type 1aa
Available tests
Clinical tests (10 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of the eye
- Attenuation of retinal blood vessels
Attenuation of retinal blood vessels
- MedGen UID: 480605
- Concept ID: C3278975
- Finding: Finding
Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Attenuation of retinal blood vessels
- Abnormality of the integument
- Hypertrichosis
Hypertrichosis
- MedGen UID: 43787
- Concept ID: C0020555
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypertrichosis
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Appendicular spasticity
Appendicular spasticity
- MedGen UID: 937224
- Concept ID: C4313257
- Finding: Finding
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebral cortical atrophy
Cerebral cortical atrophy
- MedGen UID: 1646740
- Concept ID: C4551583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Pseudobulbar paralysis
Pseudobulbar paralysis
- MedGen UID: 10989
- Concept ID: C0033790
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Status epilepticus
Status epilepticus
- MedGen UID: 11586
- Concept ID: C0038220
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Appendicular spasticity
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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