| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
9 MO |
| Age at Diagnosis(If not a control) |
2 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: |
CLINICAL EXOME SEQUENCING REVEALED A PATHOGENIC HETEROZYGOUS DE NOVO FRAMESHIFT VARIANT IN EXON 3 OF THE CHAMP1 GENE (NM_001164144.1, CHR13:115089859): C.542_543DELCT (P.SER181CYSFSX5); THE NORMAL SEQUENCE WITH THE BASES THAT ARE DELETED IN BRACKETS IS GCCT[DELCT]GTTT |
| Zygosity: |
Heterozygous |
| Other variants: |
COPY NUMBER VARIANT (CNV) ANALYSIS: THERE IS NO CLINICALLY RELEVANT DELETION OR DUPLICATION OF THREE OR MORE EXONS IN THE NEXT GENERATION SEQUENCING DATA FOR THIS PROBAND |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
9 MONTHS |
| Age at Diagnosis: |
2 YEARS - DIAGNOSED AT BY A GENETICIST |
| In Utero History Information |
| |
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| Birth History Information |
| |
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| Dysmorphic Features |
| |
Abnormal hands or feet
Hypertelorism
|
| Additional Information: |
UMBILICAL HERNIA, FRONTAL BOSSING, EPICANTHAL FOLDS, UPSLANTED PALPEBRAL FISSURES, WIDE FLAT NASAL BRIDGE, HIGH NARROW PALATE, CROWDED TEETH; SMALL FEET |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
LOW MUSCLE TONE |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
FREQUENT EAR AND EYE INFECTIONS; BILATERAL EXOTROPIA |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
BRACHYDACTYLY, SMALL FEET |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
COGNITIVE IMPAIRMENT, ABSENT SPEECH |
| 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
|
| Additional Testing: |
OTHER THERAPY: PLAY THERAPY
SURGERIES: STRABISMUS SURGERY; EAR TUBES; REMOVAL OF ADENOIDS |
| Medications |
| Family History |
| |
EXOME SEQUENCING RESULTS DEMONSTRATE THAT THIS PROBAND'S MOTHER (GM27961, GM27962) AND FATHER (GM27968, GM27980) DO NOT HARBOR THE P.S181CFSXF VARIANT IN THE CHAMP1 GENE, THOUGH GERMLINE MOSAICISM CANNOT BE EXCLUDED; FATHER IS POSITIVE FOR FACTOR V LEIDEN |