| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
2 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: |
CLINICAL EXOME SEQUENCE ANALYSIS REVEALED AN AUTOSOMAL DOMINANT DE NOVO PATHOGENIC VARIANT IN EXON 3 OF THE GATAD2B GENE: C.405_406DELTCINSG (P.S135RFSX17) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
2 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Additional Information: |
C-SECTION DELIVERY AT 39 WEEKS; MOTHER HAD LOW PLATELETS AND RECEIVED TRANSFUSION |
| Birth History Information |
| |
|
| Additional Information: |
LARGE HEAD AT BIRTH ON |
| Dysmorphic Features |
| |
Macrocephaly
|
| Additional Information: |
MILD DYSMORPHIC FACIAL FEATURES; ASYMMETRIC SKULL (MILD); PROMINENT FOREHEAD; BORDERLINE HYPERTELORIS WITH EXCESS MOVEMENT; DEPRESSED NASAL ROOT; MICROGNATHIA |
| Neurological Symptoms |
| |
Dystonia
Hypotonia
Unstable gait
White matter issues
|
| Additional Information: |
RESPONDING TO PHYSICAL THERAPY TO TREAT TORTICOLLIS (CERVICAL DYSTONIA) |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
SUCCESSFUL EYE SURGERY FOR ESOTROPIA - VISION IMPROVED |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
JOINT LAXITY; "CEREBRAL PALSY" TIGHT IN HANDS WHEN CLENCHING FINGERS; SOMETIMES DIFFICULT TO OPEN FINGERS; PROXIMAL WEAKNESS. |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Abnormal height for age
Abnormal weight for age
|
| Additional Information: |
SEVERELY SPEECH DELAYED; MOTOR DELAY; APRAXIA; CAN SIT, CRAWL, PULL UP, AND CRUISE ON FURNTURE; WALKS WITH A WADDLING OR WIDE BASE GAIT; DOES NOT CLAP OR POINT. |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Additional Information: |
BICUSPID AORTIC VALVE |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
WHITE MATTER DISEASE; HAPPY PERSONALITY; INTERACTIVE; SHOWS GOOD EYE CONTACT; USES HANDS TO GRAB ATTENTION; IS EATING AND SLEEPING WELL; SOCIAL. |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
ASSESSED AT 8.5 MONTHS AND DID NOT ROLL OVER OR SIT; HAD POOR EYE CONTACT; ONLY TURNED TO ONE SIDE AT 2 MONTHS OF AGE; BRAIN MRI SHOWED MODERATE INCREASED SUBARACHNOID FLUID SURROUNDING BOTH CEREBRAL CONVEXITIES, DECREASED T1, INCREASED T2 SIGNAL, SMALL AREA OF GLIOSIS VERSUS HYPOMYELINATION IN RIGHT POSTERIOR PERIVENTRICULAR WHITE MATTER. |
| Musculoskeletal and Developmental Testing: |
BASED ON CDC BOYS 2-20 YEARS, 96%ILE FOR WEIGHT, >99%ILE FOR HEIGHT, >99%ILE FOR HEAD CIRCUMFERENCE, BMI 15.5 |
| Respiratory and Cardiovascular Testing: |
CARDIAC ECHO: BICUSPID AORTIC VALVE |
| Uncategorized Testing: |
NORMAL MICROARRAY GENETIC TEST |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Surgeries |
EYE SURGERY |
| Medications |
| Family History |
| |
BOTH PARENTS (NOT IN REPOSITORY) TESTED NEGATIVE FOR THE VARIANT IN GATAD2B; PARENTS HAVE MILDLY LARGE HEADS; MOST LIKELY THE VARIANT IS DE NOVO IN THE AFFECTED CHILD THOUGH THE POSSIBILITY OF GERMLINE MOSAICISM CANNOT BE RULED OUT; MOTHER'S MATERNAL COUSIN HAS LEGG-PERTHES; MOTHER HAS A NORMAL HALF SISTER; PATERNAL GRANDFATHER HAD A HEART ATTACK BUT IS ALIVE; NO FAMILY HISTORY OF BIRTH DEFECTS, GENETIC DISORDERS, DEVELOPMENTAL DISORDERS, OR DEVELOPMENTAL DELAY; PARENTS ARE NOT RELATED. |
| Remarks |
Clinically affected. Mild developmental delay, macrocephaly with mild dysmorphic features. Moderate motor delays. Apraxia. Only turned to one side at 2 months. Roll over at 8 months. Walking with a wide gait. Severely speech delay. White matter disease. M |