| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 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 |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
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| Optical and Audiological Symptoms |
| |
Defective vision
|
| Musculoskeletal Symptoms |
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| 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 |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Intellectual Disability: |
Moderate |
| 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
glasses
|
| Additional Testing: |
ADDITIONAL TREATMENT AND ASSISTIVE DEVICES: ABA (APPLIED BEHAVIOR THERAPY) / IBI (INTENSIVE BEHAVIOR INTERVENTION) |
| 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 |
Clinically affected. See "Phenotypic Data" tab; lymph is GM28206; fibro is GM28210; unaffected mother is GM28208 (lymph) and GM28211 (fibro) and unaffected father is GM28209 (lymph) and GM28212 (fibro). |