| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 YR |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
MBD5, C.3044A>G (P.Q1015R), MISSENSE, EXON 11 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
|
| Additional Information: |
POOR WEIGHT GAIN |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
FEEDING ISSUES |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
USING BRACINGS FOR WALKING |
| Medications |
| Family History |
| Remarks |
Clinically affected; diagnosed at 2 years of age by geneticist; speech and language skills delayed; poor weight gain; feeding issues; subject is heterozygous for the Q1015R variant in exon 11 of the MBD5 gene as determined by whole-exome sequencing [p:Gln1015Arg(CAG>CGG), c.3044A>G]; assistive devices include braces (for walking). |