| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
3 DA |
| Age at Diagnosis(If not a control) |
11 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
SPAIN |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQEUCNING REVEALED A PATHOGENIC VARIANT, IN THE PACS1 GENE, C.607C>T, P.ARG203TRP, EXON 4, MISSENSE. |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQEUCNING REVEALED A VARIANT OF UNKNOWN SIGNIFICANCE, IN THE KAT6A GENE, C.3086A>G, P.HIS1029ARG, EXON 16, MISSENSE. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 DAYS |
| Age at Diagnosis: |
11 YEARS |
| In Utero History Information |
| |
|
| Additional Information: |
PRENATAL SINGLE UMBILICAL ARTERY |
| Birth History Information |
| |
|
| Additional Information: |
SYSTOLIC HEART MURMUR, 90TH PERCENTILE FOR BIRTH WEIGHT, NEONATAL SEIZURES, NEONATAL HYPOTHERMIA. |
| Dysmorphic Features |
| |
Macrocephaly
|
| Additional Information: |
BRACHYCEPHALY, LOW HAIRLINE, BROAD NOSE, UPWARD-SLANTING PALPEBRAL FISSURES, EDEMATOUS EYELIDS, PROTRUDING TONGUE WITH DOWNTURNED MOUTH, SHORT NECK WITH POSTERIOR NUCHAL FOLD, SHORT FINGERS, MILD PTOSIS OF THE RIGHT EYELID. |
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
AXIAL HYPOTONIA |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
|
| Additional Information: |
ADVANCED PUBERTY, PSYCHOMOTOR DELAY |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Additional Information: |
CONGENITAL HEART DISEASE (MUSCULAR VENTRICULAR SEPTAL DEFECT) |
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Autism spectrum disorder
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
SLEEP-DEPRIVED EEG FOUND POORLY DIFFERENTIATED BACKGROUND AND SIGNS OF DYSMATURITY. |
| Respiratory and Cardiovascular Testing: |
ELECTROCARDIOGRAM REVEALED AN INCOMPLETE RIGHT BUNDLE BRANCH BLOCK AND TWO MUSCULAR VSDS; DILATION OF THE RIGHT-SIDED CARDIAC CHAMBERS. |
| Cognitive and Behavioral Testing: |
RECEIVES PSYCHOTHERAPY. |
| Uncategorized Testing: |
NORMAL FEMALE KARYOTYPE THAT IDENTIFIED 3 CNVS ASSUMED TO BE POLYMORPHIC VARIANTS IN THE GENERAL POPULATION: CHR2P11.2-P11.1:89624745-91043647; LOC650137 AT CHR15Q11.2:19886142-20200002; AND KIAA1267 AT CHR17Q21.31:41544024-41707070. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |