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 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 |
|
Abnormal fetal heart rate or rhythm Fetal growth issues Advanced maternal age Decreased fetal movement Intrauterine growth restriction Oligohydramnios Polyhydramnios Assisted reproduction
|
Additional Information: |
No Data |
Birth History Information |
|
Low birth weight Jaundice Difficulty breathing Abnormal serum screen Failure to thrive Positive newborn screen Caesarian section Neural tube defect Meconium ileus Gastroischisis Premature delivery
|
Additional Information: |
No Data |
Dysmorphic Features |
|
Strabismus Coarse facies Short philtrum Wide mouth Cleft lip Cleft palate Cupped ears Thick fleshy lips Widely-spaced teeth Tented cupid Fetal pads Simian crease Abnormal hands or feet Hypertelorism Hypotelorism Macrocephaly Microcephaly Holoprosencephaly
|
Additional Information: |
PROMINENCE OF NASOPHARYNGEAL ADENOIDS INDENTS THE AIRWAY |
Neurological Symptoms |
Neuropathy: |
No Data |
|
Lissencephaly Cerebral palsy Corpus callosum abnormalities Ataxia Chorea Dystonia Hypertonia Hypotonia Seizures Structural brain anomaly Hydrocephalus Sleep abnormalities Polymicrogyria Unstable gait Dandy walker White matter issues Basal ganglia damage
|
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 |
|
Defective vision Pupil abnormality Cornea abnormality Nystagmus Optic disk palor Optic nerve damage Blindness Deafness Defective hearing Blepharitis Congenital exotropia Alacrima
|
Additional Information: |
EYE BLINKING |
Musculoskeletal Symptoms |
|
Acromelia Rhizomelia Club foot Contractures Scoliosis Kyphosis Skeletal dysplasia Vertebral anomalies Non-ambulatory
|
Additional Information: |
No Data |
Developmental Milestones |
|
Delayed speech and language development Global developmental delay Delayed fine motor skills Delayed gross motor skills Abnormal height for age Abnormal weight for age
|
Holding Head Up Without Assistance: |
No Data |
Sitting Without Assistance: |
No Data |
Walking Without Assistance: |
No Data |
Running: |
No Data |
Additional Information: |
No Data |
Gastrointestinal Symptoms |
|
Hepatosplenomegaly Pyloric stenosis Hirschsprung Bloating Constipation Gastrointestinal reflux Eating difficulties Cholecystectomy Liver abnormalities Pancreatitis Esophageal atresia
|
Additional Information: |
No Data |
Genitourinary Symptoms |
|
Kidney abnormalities Abnormalities of the ureter Abnormalities of the urethra Polycystic kidneys Renal agenesis Urethral obstruction Hydronephrosis Megacystis Urinary tract infection Ovarian cancer Cryptorchidism Ambiguous genitalia
|
Additional Information: |
No Data |
Respiratory and Cardiovascular Symptoms |
|
Hypoplastic left heart Hypoplastic right heart Coarctation of aorta Atrial septal defect AV canal defect Tetralogy of fallot Truncus arteriosus Ebstein anomaly Heart murmur Poor circulation Breathing irregularities Pneumothorax Diaphragmatic hernia Asthma Pulmonary valve atresia
|
Additional Information: |
No Data |
Cognitive and Behavioral Symptoms |
|
Happy personality Anxiety Mood disorder Behavioral problems Autism spectrum disorder Sensory processing disorder Aggression Memory loss Sleep disturbances Learning disability Attention deficit hyperactivity disorder
|
Intellectual Disability: |
No Data |
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 |
Optical and Audiological Testing: |
No Data |
Musculoskeletal and Developmental Testing: |
No Data |
Respiratory and Cardiovascular Testing: |
No Data |
Cognitive and Behavioral Testing: |
No Data |
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) |
Uncategorized Testing: |
No Data |
Treatments and Assistive Devices |
|
Occupational therapy Physical therapy Speech therapy Wheelchair or ambulation devices Orthotics Service animal Hearing aid Communication or learning devices music therapy horseback therapy craniosacral therapy glasses
|
Surgeries |
No Data |
Additional Testing: |
No Data |
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 |
|
No Data |
Remarks |
See Phenotypic Data tab. |