| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
6 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: |
ASH1L, C.4902_4903DEL, P.S1635CFS*18, EXON 3 |
| Zygosity: |
Heterozygous |
| Other variants: |
TSHZ3, C.1288G>A, P.V340I, EXON 2 (DE NOVO VUS)
TNR, C.719G>T, P.S240I, EXON 4 (MATERNAL VUS)
TNR, C.574G>A, P.E192K, EXON 4 (PATERNAL VUS) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEARS OLD |
| Age at Diagnosis: |
6 YEARS OLD |
| 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 |
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| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
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| 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
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Speech therapy
|
| Medications |
| Family History |
| Remarks |
Clinically affected. Autism spectrum disorder. See "Phenotypic Data" Tab. De novo heterozygous mutation in the ASH1L gene c.4902_4903del (p.S1635Cfs). 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. |