| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
17 MO |
| Age at Diagnosis(If not a control) |
5 YR |
| Hispanic or Latino/Not Hispanic or Latino |
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: |
ZBTB47, C.1429G>A (P.E477K), MISSENSE |
| Zygosity: |
Heterozygous |
| Other variants: |
PPOX, C.338+2DUPT, ABERRANT SPLICING, HETEROZYGOUS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
17 MONTHS |
| Age at Diagnosis: |
5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Hypertelorism
|
| Additional Information: |
LEG LENGTH DISCREPANCY |
| Neurological Symptoms |
| |
Seizures
Structural brain anomaly
Sleep abnormalities
Unstable gait
White matter issues
|
| Additional Information: |
TREMOR |
| Optical and Audiological Symptoms |
| |
Defective hearing
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
JOINT LAXITY |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
|
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
FREQUENT GI INFECTIONS
FREQUENT ABDOMINAL PAIN |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Additional Information: |
AORTIC VALVE ANOMALY
TWO EPISODES OF RESPIRATORY FAILURE
STRIDOR |
| Cognitive and Behavioral Symptoms |
| |
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Sleep disturbances
|
| Additional Information: |
ABNORMAL SPEECH
DOES NOT UNDERSTAND SPEECH
OBSESSIVE-COMPULSIVE DISORDER LIKE BEHAVIOR
NOT POTTY TRAINED |
| Additional Information |
| Uncategorized Symptoms: |
LOW BODY TEMPERATURE
LOW BLOOD PRESSURE
SIGNS OF PURBERTY (BODY ODOR) |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI: CHIARI I MALFORMATION (CORTICAL DYSPLASIA OF LEFT TEMPORAL LOBE); HAZINESS OF GREY-WHITE MATTER INTERFACE TEMPORAL POLES, ESPECIALLY L TEMPORAL LOBE; MILD ASYMMETRIC HIGH DENSITY IN LEFT INSULA. PET: DECREASED GLUCOSE METABOLISM IN TEMPORAL LOBES AND LEFT FRONTAL LOBE. EEG: INDEPENDENT LEFT AND RIGHT PARIETAL EPILEPTIFORM DISCAHRGES |
| Cognitive and Behavioral Testing: |
PSYCHOLOGICAL TESTING: SIGNIFICANT BEHAVIORAL DYSREGULATION; MODERATE INTELLECTUAL DISABILITY; CONSIDERABLE LANGUAGE AND COMMUNICATION IMPAIRMENT; FINE MOTOR DIFFICULTIES |
| Metabolic, Hematologic, and Endocrinologic Testing: |
METABOLIC TESTING: LACTIC ACID LOW; 2-HYDROXYLGLUTARIC ACID AND ACETOACETIC ACID 2-TIMES THAN NORMAL |
| Uncategorized Testing: |
LIGHT SENSITIVITY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
ADENOIDECTOMY
TONSILLECTOMY
PE TUBE INSERTION |
| Medications |
| |
SEIZURE MEDICINES INEFFECTIVE AND DISCONTINUED |
| Family History |
| |
THREE SISTERS HAVE CHIARI MALFORMATION. |
| Remarks |
Clinically affected. Seizure disorder (epilepsy); global developmental delays; behavior disorder including autism; Chiari malformation. Symptom began in 17 months with epilepsy lead to stopped breath. For more information see "Phenotic Data" tab. A de nov |