| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
4 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not 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 AN AUTOSOMAL DOMINANT MUTATION IN THE CHAMP1 GENE: C.1945C>T (P.Q649X) |
| Zygosity: |
Heterozygous
Notes: OTHER LIKELY PATHOGENIC AUTOSOMAL DOMINANT/RECESSIVE HETEROZYGOUS VARIANT IS IN GJB2 GENE: C.269DUPT (P.V91SFSX11); LIKELY BENIGN AUTOSOMAL RECESSIVE HETEROZYGOUS VARIANT IN TMEM67 GENE: C.2241G>A (P.Q747*) - INHERITED FROM MOTHER |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
4 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
DYSMORPHIC FEATURES |
| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
Defective vision
Defective hearing
|
| Additional Information: |
FOVEAL HYPOPLASIA; BLOND FUNDUS; NYSTAGMUS; MILD LEFT HEARING LOSS |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Additional Testing: |
SURGERIES: TONSILS/ADENOIDS |
| Medications |
| Family History |
| |
MOTHER IS NEGATIVE FOR THE MUTATION IN CHAMP1. |