Case
SR642
Student Mode
Homocystinuria (IID3)
Male
Male
Hidden
SR642
Student Mode
Homocystinuria (IID3)
Male
Male
Highlighted Images
| Age at visit: 8 years | |
| OD | OS |
|---|---|
History
This 8 year old boy had "failure to thrive", microcephaly, hepatomegaly and nystagmus at 3 months of age. He is now receiving vitamin and metabolic precursor therapy.
Pedigree
| Age at visit: 7 years |
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| Age at visit: 8 years |
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| Age at visit: 9 years |
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| Age at visit: 10 years |
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| Age at visit: 11 years |
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| Age at visit: 13 years |
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| Age at visit: 14 years |
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| Age at visit: 15 years |
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| Age at visit: 16 years |
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|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Homocystinuria | MTR | Leu212 del2cTT | Asn799Asp AAT>GAT | AR |
Disease:
Gene:
Allele 1:
Leu212 del2cTT
Allele 2:
Asn799Asp AAT>GAT
Inheritance:
AR