Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
3 YR |
Sex |
Male |
Age of Onset(If not a control) |
21 MO |
Age at Diagnosis(If not a control) |
29 MO |
Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
Racial Category |
Asiatic Indian |
Country |
INDIA |
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Data Elements |
Clinical Element Type: General NIGMS Catalog Remarks |
(Baseline) |
Mutation Information |
Gene, variant, consequence, and exon number: |
GAMT, C.424_426DELGAG, P.GLU142DEL IN EXON 4; SHOWN BY FOCUSED EXOME SEQUENCING |
Zygosity: |
Homozygous Notes: VARIANT INHERITED FROM BOTH MOTHER AND FATHER |
Other variants: |
KCNQ2, C.2323A>G (P.ARG775GLY), HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE, INHERITED FROM FATHER; MCM6, C.1366G>A (P.VAL456MET), HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE (RS191517067) |
Age of Symptom Onset and Age at Diagnosis |
Age of Symptom Onset: |
21 MONTHS |
Age at Diagnosis: |
29 MONTHS |
In Utero History Information |
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Birth History Information |
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Dysmorphic Features |
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Additional Information: |
PROMINENCE OF NASOPHARYNGEAL ADENOIDS INDENTS THE AIRWAY |
Neurological Symptoms |
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Sleep abnormalities
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Additional Information: |
MRI SCAN REVEALED FOCAL BILATERALLY SYMMETRIC FOCI OF ALTERED SIGNAL & DIFFUSION RESTRICTION INVOLVING THE DORSAL PONS & MEDULLARY TEGMENTUM / CENTRAL TEGMENTAL TRACTS (MEDIAL LONGITUDINAL FASCICULUS); CEREBRAL DYSRHYTHMIA |
Optical and Audiological Symptoms |
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Additional Information: |
EYE BLINKING |
Musculoskeletal Symptoms |
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Developmental Milestones |
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Delayed speech and language development Delayed fine motor skills Delayed gross motor skills
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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: |
MULTIPLE EPISODES OF HEAD DROP (5-6 PER DAY) SINCE 1 MONTH; POOR UNDERSTANDING |
Additional Information |
Uncategorized Symptoms: |
LICKS; MAKES ABNORMAL SOUNDS |
Testing Performed |
Neurological Testing: |
MRI IMAGING; MR SPECTROSCOPY REVEALED SIGNIFICANT REDUCTION IN CREATININE LEVELS; EEG |
Metabolic, Hematologic, and Endocrinologic Testing: |
AMINO ACID PLASMA UHPLC REVEALED NO SIGNIFICANT ABNORMALITY; GUANADINO COMPOUNDS IN PLASMA AND URINE REVEALED LOW LEVELS OF CREATINE AND ELEVATED GAA; URIC ACID SERUM; LFT-A; CALCIUM SERUM; CREATININE SERUM; UREA SERUM; ELECTROLYTES; CBP (COMPLETE BLOOD PICTURE) |
Treatments and Assistive Devices |
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Occupational therapy Physical therapy Speech therapy
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Medications |
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SABRIL; TAURINE; CREATINE MONOHYDRATE; METANUTRITION; SODIUM BENZOATE; ORNITHINE; TETRAFOL PLUS; RIVOTRIL; LEVIPIL; NEOPEPTINE; A-Z VITAMIN; ULTRA D3; ASPIRITO; CEFIXIME (FOR STOMACH ILLNESS) |
Family History |
Remarks |
See Phenotypic Data tab. |