| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
18 MO |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
2 WK |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS AUTOSOMAL RECESSIVE PATHOGENIC VARIANT (C.1748G>A) IN EXON 11 OF THE MTHFR GENE RESULTING IN A PREMATURE TRANSLATIONAL STOP SIGNAL (P.TRP583*); READS ALIGNED TO A REFERENCE SEQUENCE GRCH37 |
| Zygosity: |
Heterozygous |
| Other variants: |
TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE (C.767T>A) IN EXON 5 OF THE MTHFR GENE RESULTING IN A REPLACEMENT OF ISOLEUCINE WITH ASPARAGINE AT CODON 256 (P.ILE256ASN); READS ALIGNED TO A REFERENCE SEQUENCE GRCH37 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
2 WEEKS OLD |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Additional Information: |
SMALL HEAD |
| Neurological Symptoms |
| |
Seizures
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Global developmental delay
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Physical therapy
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| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" Tab |