| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
20 MO |
| 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 DE NOVO AUTOSOMAL DOMINANT MUTATION IN EXON 3 OF THE CHAMP1 GENE: C.1850DUPA (P.LYS618GLUFSX13) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
20 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Abnormal hands or feet
Microcephaly
|
| Additional Information: |
DYSMORPHIC FEATURES, PLAGIOCEPHALY, HYPOPLASTIC THUMBS, HYPOPLASTIC FINGERNAILS, DISTAL TOES, MACULAR HYPOPLASIA |
| Neurological Symptoms |
| |
|
| Additional Information: |
APNEA FOR GREATER THAN 15 SECONDS |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
ACQUIRED NASOLACRIMAL DUCT STENOSIS |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
CHAMP1-RELATED.0 INTELLECTUAL DISABILITY SYNDROME |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
LACTOSE INTOLERANCE |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
H/O SELF-HARM |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
|
| Additional Testing: |
COURTNEY BED |
| Medications |
| |
CALCIUM CARB-CHOLECALCIFEROL, CHOLECALCIFEROL (VITAMIN D3), ASCORBIC ACID (VITAMIN C), POLYETHYLENE GLYCOL (MIRALAX), ONDANSETRON (ZOFRAN), MELATONIN, MULTIVITAMINS AND MINERALS, PROBIOTIC, DHA |
| Family History |
| |
SEGREGATION ANALYSIS BY WHOLE EXOME SEQUENCING DID NOT REVEAL THE VARIANT IN EITHER PARENT. |