Glycosylphosphatidylinositol biosynthesis defect 16
- Synonyms
- MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62
Available tests
7 tests are in the database for this condition.
Clinical tests (7 available)
Genes See tests for all associated and related genes
Also known as: GPI2, GPIBD16, MRT62, PIGC
Summary: phosphatidylinositol glycan anchor biosynthesis class C
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
- Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Poor speech
Poor speech
- MedGen UID: 341172
- Concept ID: C1848207
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed ability to walk
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