| 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 |
| |
| 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 |
| 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 |
| |
Sleep abnormalities
|
| 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 |
| |
Delayed speech and language development
Delayed fine motor skills
Delayed gross motor skills
|
| 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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| Medications |
| |
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 |
Reprogrammed from parental line GM27892 (PBMC). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |