| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED A PATHOGENIC VARIANT (C.6253C>T) IN EXON 28 OF THE ATRX GENE (NM_000489.3) RESULTING IN A MISSENSE MUTATION (P.ARG2085CYS) |
| Zygosity: |
Hemizygous
Notes: HEMIZYGOUS FOR X-LINKED DISORDER |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
|
| Additional Information: |
EPICANTHAL EYE FOLDS; WIDE NASAL BRIDGE; INVERTED NIPPLES |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
CEREBRAL VISUAL IMPAIRMENT; POSSIBLE PERIVENTRICULAR LEUKOMALACIA |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
LOW TONE IN MOUTH; SHORT STATURE |
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
| |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Medications |
| |
MIRALAX |
| Family History |
| |
MOTHER IS AN UNAFFECTED CARRIER |
| Remarks |
See Phenotypic Data tab; unaffected father is GM28395 (LCL) |