| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
36 YR |
| Sex |
Female |
| 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: |
WHOLE GENOME SEQUENCING REVEALED A PATHOGENIC VARIANT (C.919 G>A) IN THE CBS GENE RESULTING IN A TYPE OF MISSENSE MUTATION (P.GLY307SER). |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Additional Information: |
BILATERAL LENS DISLOCATION; LENS REPLACEMENT |
| Musculoskeletal Symptoms |
| |
Scoliosis
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| Additional Information: |
OSTEOPENIA |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
| |
Cholecystectomy
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| Additional Information: |
APPENDECTOMY; GALLSTONES; LOW CREATININE |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Additional Information: |
BLOOD CLOT IN WRIST; CHEST XRAY REVEALED AIRSPACE DISEASE AND BRONCHIECTASIS IN RIGHT LOWER LOBE |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Additional Testing: |
FOLLOWS LOW PROTEIN DIET WITH MEDICAL FORMULA |
| Medications |
| |
ACETYLCYSTEINE; ASCORBIC ACID; BETAINE; BUDESONIDE; CALCIUM-MAGNESIUM-ZINC TABLETS; VITAMIN D3; PLAVIX; VITAMIN B-12; FLUTICASONE PROPIONATE; FOLIC ACID; LACTOBACILLUS ACIDOPHILUS; LECITHIN; LEVOCETIRIZINE; SINGULAIR; HCU EXPRESS POWDER; OMEGA3 FISH OIL TABLETS; VITAMIN B-6 |
| Family History |
| |
FAMILY HISTORY OF CANCER: MATERNAL UNCLE- LIVER, MATERNAL COUSIN- COLON, MATERNAL GRANDMOTHER- SKIN, AUNT- BREAST |
| Remarks |
See "Phenotypic Data" tab; |