| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
9 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
8 YR |
| Age at Diagnosis(If not a control) |
8 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CBS, C.444DUP, P.(ASN149GLUFS), EXON 5. SEQUENCE ANALYSIS USING THE BLUEPRINT GENETICS CBS SINGLE GENE TEST |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
CBS, C.361C |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
8 YEARS OLD |
| Age at Diagnosis: |
8 YEARS OLD |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
LENS DISLOCATION: LENSES IN BOTH EYES HAD TO BE REMOVED
SEVERE MYOPIA |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
FRACTURES
MILD OSTEOPENIA |
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
ELEVATED HOMOCYSTEINE AND METHIONINE |
| Treatments and Assistive Devices |
| |
|
| Surgeries |
CATARACT SURGERY |
| Medications |
| |
BETAINE
METHIONINE/PROTEIN RESTRICTED DIET |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" tab; unaffected mother is GM28728 (lymph) and unaffected father is GM28727 (lymph). |