| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 MO |
| Sex |
Male |
| Age of Onset(If not a control) |
3 MO |
| Age at Diagnosis(If not a control) |
13 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 HETEROZYGOUS DE NOVO PATHOGENIC VARIANT IN CHAMP1 (NM_001164145.2) C.1455DUP, (P.ILE486TYRFS*2) |
| Zygosity: |
Heterozygous
Notes: DE NOVO MUTATION |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 MONTHS |
| Age at Diagnosis: |
13 MONTHS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Additional Information: |
PETECHIAE; EPICANTHAL FOLDS; FRONTAL BOSSING; DEPRESSED NASAL BRIDGE; UPTURNED NARES; TENTED UPPER LIP; DOWNSLOPING CORNERS OF THE MOUTH; SHORT NECK; PALPABLE LIVER; SWELLING ON THE DORSUM OF THE FEET; HYPOPLASTIC NAILS |
| Neurological Symptoms |
| |
Hypotonia
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Global developmental delay
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| Additional Information: |
MOTOR DELAY AT 8 MONTHS OF AGE; GROWTH AND DEVELOPMENT WITHIN NORMAL LIMITS AT 12 MONTHS OF AGE; CRAWLED AT 12 MONTHS OF AGE |
| 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 |
| Metabolic, Hematologic, and Endocrinologic Testing: |
CREATINE KINASE LEVELS WITHIN NORMAL LIMITS; ENZYMES IN LYSOSOMAL STORAGE DISORDER SCREEN WERE WITHIN NORMAL LIMITS; ALPHA-FUCOSIDASE LEVELS SLIGHTLY ELEVATED |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| Family History |
| |
NO HISTORY OF DISEASE; DE NOVO MUTATION IN CHAMP1 - DOES NOT RULE OUT GONADAL MOSAICISM |
| Remarks |
See "Phenotypic Data" Tab |