| 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). |