Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
18 YR |
Sex |
Female |
Age of Onset(If not a control) |
1 YR |
Age at Diagnosis(If not a control) |
5 YR |
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: |
GAMT, C.299_C.311DUP13 (P.R105G1AX2B), EXON 2 |
Zygosity: |
Compound Heterozygous |
Other variants: |
GAMT, C.233T>A (P. V78E), EXON 2 |
Age of Symptom Onset and Age at Diagnosis |
Age of Symptom Onset: |
1 YEAR |
Age at Diagnosis: |
5 YEARS |
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: |
No Data |
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: |
SEIZURES BEGAN AGE 5 WITH ABSENCE EPILEPSY AND GENERALIZED TONIC-CLONIC EPISODES BEGINNING AT AGE 10. |
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: |
No Data |
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: |
ACADEMIC DELAYS |
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: |
Moderate |
Additional Information: |
CLINICALLY PROBLEMS WITH INHIBITION, EMOTIONAL CONTROL, PLANNING/ORGANIZATION, SELF-MONITORING, ATYPICALITY, WITHDRAWAL, AND FUNCTIONAL COMMUNICATIONS. DEFICITS IN ADAPTIVE FUNCTIONING AND DAILY FUNCTIONING SKILLS; POSITIVE EMOTIONAL AND BEHAVIORAL ADJUSTMENT. |
Additional Information |
Uncategorized Symptoms: |
EUTHYMIC MOOD AND ALERT; SIGNIFICANT COGNITIVE SLOWING; LIMITED RECEPTIVE AND EXPRESSIVE LANGUAGE SKILLS WITH LIMITED VOCABULARY DEVELOPMENT; ARTICULATE AND INTELLIGIBLE SPEECH. |
Testing Performed |
Neurological Testing: |
No Data |
Optical and Audiological Testing: |
No Data |
Musculoskeletal and Developmental Testing: |
No Data |
Respiratory and Cardiovascular Testing: |
No Data |
Cognitive and Behavioral Testing: |
WECHSLER INTELLIGENCE SCALE FOR CHILDREN; BEHAVIOR ASSESSMENT SYSTEM FOR CHILDREN; BEHAVIOR RATING INVENTORY OF EXECUTIVE FUNCTION (BRIEF).
VERBAL COMPREHENSION (45) EXTREMELY LOW; VISUAL SPATIAL (45) EXTREMELY LOW; FLUID REASONING (61) EXTREMELY LOW; WORKING MEMORY (59) EXTREMELY LOW; PROCESSING SPEED (56) EXTREMELY LOW. |
Metabolic, Hematologic, and Endocrinologic Testing: |
No Data |
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 |
LITHOTRIPSY, VAGAL NERVE STIMULATION, TOTAL SHOULDER ARTHROPASTY. |
Additional Testing: |
No Data |
Medications |
|
LAMICTAL, ONFI. |
Family History |
|
YOUNGER BROTHER IS CURRENTLY ASYMPTOMATIC DUE TO EARLY DIAGNOSIS AND TREATMENT. |
Remarks |
Clinically affected. Substantial developmental delay, moderate intellectual disability, and mild epilepsy. Patient 2 of Viau 2013 (PMID: 24071436). Patient 25 of Stockler-Ipsiroglu (PMID: 24268530). Assessed for developmental disabilities at 3 years of age. Seizures began at 5 years of age. Treatment began at 5 years and 6 months of age for 30 months; improvement on developmental delay, speech delay and behavior, remaining mild epilepsy. Brother GM28757 is currently asymptomatic after early diagnosis and treatment. Mother is GM28759. Father is GM28758. Fibroblast line is GM28379 and iPSC line is GM28936. |