| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
1 YR |
| Racial Category |
Asian |
| Country |
AUSTRALIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CLINICAL EXOME TRIO ANALYSIS REVEALED A MUTATION IN THE ADNP GENE, C.2212DUPT: P.SER738PHEFS*6. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
1 YEAR AND 9 MONTHS |
| In Utero History Information |
| |
|
| Additional Information: |
POSTPARTUM DEPRESSION |
| Birth History Information |
| |
Difficulty breathing
|
| Additional Information: |
DID NOT CRY AT BIRTH & NEEDED RESUSCITATION; APGAR SCORES 6/10 AND 8/10 AT 1 AND 5 MINS; HAD MILDLY LOW SUGARS AND NEEDED SUPPLEMENTARY FORMULA; LETHARGIC; FEBRILE AND ABSENT SEIZURES; BREATH HOLDING SPASMS W/ UNCONSCIOUSNESS AT 3 MONTHS OF AGE (NOT ANY MORE SINCE 19 MONTHS OF AGE) |
| Dysmorphic Features |
| |
Strabismus
Hypotelorism
|
| Additional Information: |
LOW HAIR LINE; INVERTED V SHAPED UPPER LIP; LOW SET EARS |
| Neurological Symptoms |
| |
Seizures
Unstable gait
|
| Additional Information: |
EPISODES OF FEBRILE SEIZURE AT 6 AND 8 MONTHS;
EPISODE OF ABSENCE SEIZURE AT THE AGE OF 15 MONTHS; CORTICAL CYSTS |
| Optical and Audiological Symptoms |
| |
Congenital exotropia
|
| Additional Information: |
USES SIGN LANGUAGE AND PECS.
EXOTROPIA PRESENT WITH NORMAL VISION |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
RESTRICTED FLEXION AND EXTENSION AT KNEES AND ANKLES WITH WIDE GAIT. |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
INTELLECTUAL DELAYS; EARLY INTERVENTION FOR DEVELOPMENTAL DELAYS; PROGRESSING REMARKABLY IN GROSS MOTOR ABILITIES; IMPROVING FINE MOTOR AND VISOU-MOTOR ABILITIES; LEARNING RUNNING AND JUMPING |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
FOOD INTOLERANCE; CHOKING; FOOD SENSITIVITIES WITH ELIMINATION DIET |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
BREATH HOLDING SPASMS CAUSING UNCONSCIOUSNESS UP TO THE AGE OF 19 MONTHS |
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information: |
ORAL SENSORY SEEKING; EXPRESSES ANGER BY CLENCHING AND TIGHTENING HIMSELF WITH CRYING AND SCREAMING; FLAPS HANDS AND BOUNCES WHEN HAPPY; HAS THE PRESENCE OF AUTISM LIKE FEATURES
NEED TO HAVE SOMEONE AROUND HIM ALL THE TIME;
DEPENDENT ON HIS CARE GIVERS FOR ALL ACTIVITIES OF DAILY LIVING |
| Additional Information |
| Uncategorized Symptoms: |
ECZEMA; FOOD ALLERGIES |
| Testing Performed |
| Neurological Testing: |
NORMAL EEG; MRI SHOWED CORTICAL CYSTS |
| Optical and Audiological Testing: |
EXOTROPIA PRESENT WITH NORMAL VISION; PLAY BASED AUDIOMETRY - NORMAL HEARING |
| Respiratory and Cardiovascular Testing: |
2DECHO (NORMAL) |
| Cognitive and Behavioral Testing: |
PLAY BASED ASSESSMENT |
| Metabolic, Hematologic, and Endocrinologic Testing: |
THYROID SCREENING (NORMAL); RENAL FUNCTION (NORMAL) |
| Uncategorized Testing: |
ALLERGY TESTING |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
EPI-PEN TO TREAT ALLERGIES
ELIMINATION DIET |
| Family History |
| Remarks |
See "Phenotypic Data" Tab. 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. |