| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
9 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asian |
| Country |
CANADA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TARGETED SANGER SEQUENCE ANALYSIS DETECTED A HETEROZYGOUS VARIANT IN THE PACS1 GENE (NM_018026.3): C.607C>T(P.ARG203TRP) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
3 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
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| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
INTELLECTUAL AND DEVELOPMENTAL DISABILITY; COMPLETES 3-PIECE BLOCK DESIGN WITH EXTRAS INDEPENDENTLY; IMITATES A VARIETY OF WORDS AND 10 THREE-WORD PHRASES, FINE MOTOR IMITATION; MANDS FOR PREFERRED ITEMS AND ACTIVITIES INDEPENDENTLY; LABELS UP TO 3 DIFFERENT PARTS OF 8 DIFFERENT OBJECTS; IDENTIFIES WHO, WHAT, WHERE OF PICTURES; FILLS IN 16 ITEMS WHEN GIVEN THE FUNCTION; LOOKS AT THERAPIST WHEN ACCEPTING REINFORCING ITEM; PLAYS DUCK DUCK GOOSE AND RED LIGHT GREEN LIGHT WITH THERAPIST; DRESSES INDEPENDENTLY; WASHES AND DRIES HANDS AND BRUSHES HAIR WITH PROMPTS; READS SIMPLE WORDS INDEPENDENTLY; TRACES SIMPLE LINES AND SHAPES |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
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| Respiratory and Cardiovascular Symptoms |
| |
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| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
BASED ON ASSESSMENT OF BASIC LANGUAGE AND LEARNING SKILLS (ABLLS-R) RESULTS: AREAS OF STRENGTH INCLUDE COOPERATION AND REINFORCER EFFECTIVENESS, RECEPTIVE LANGUAGE, MOTOR IMITATION, VOCAL IMITATION, SPONTANEOUS VOCALIZATION, SOCIAL INTERACTION; AREAS OF NEED INCLUDE VISUAL PERFORMANCE, REQUESTS, LABELING, INTRAVERBAL LANGUAGE, PLAY SKILLS, GROUP INSTRUCTION, AND CLASSROOM ROUTINES |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
|
| Additional Testing: |
ADDITIONAL TREATMENT AND ASSISTIVE DEVICES: ABA (APPLIED BEHAVIOR THERAPY) / IBI (INTENSIVE BEHAVIOR INTERVENTION); GLASSES |
| Medications |
| |
ANTI-SEIZURE MEDICATION - VALPROIC ACID, CARNITOR; HERBALGEM COMPLEXES G4, G7, G9, G8; ROYAL JELLY |
| Family History |
| |
MOTHER (LYMPH GM28208, FIBRO GM28211) AND FATHER (LYMPH GM28209, FIBRO GM28212) ARE UNAFFECTED. |
| Remarks |
Reprogrammed from parental line GM28210 (fibro); same subject as GM28206 (lymph); unaffected mother is GM28208 (lymph) and GM28211 (fibro) and unaffected father is GM28209 (lymph) and GM28212 (fibro). The Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |