| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
5 WK |
| Age at Diagnosis(If not a control) |
3 MO |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NGS EXOME SEQUENCING: COMPOUND HETEROZYGOUS FOR TWO PATHOGENIC VARIANTS IN THE EPG5 GENE: C.3200DEL (P.LEU1067TYRFSTER10) AND C.2595G>A (P.TRP865TER) |
| Zygosity: |
Heterozygous
Notes: NO REPORTABLE VARIANTS IN ADA2 WHICH IS ASSOCIATED WITH VACULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY AND HEMATOLOGIC DEFECTS SYNDROME |
| Other variants: |
LIKELY PATHOGENIC VARIANT IN ITCH C.337+2T>C WHICH CONFERS A CARRIER STATUS FOR AUTOSOMAL RECESSIVE MULTISYSTEM AUTOIMMUNE DISEASE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5 WEEKS |
| Age at Diagnosis: |
DIAGNOSED AT 2.5 MONTHS BY A GENETICIST AND GENETIC COUNSELOR |
| In Utero History Information |
| |
|
| Additional Information: |
PREGNANCY COMPLICATED WITH GESTATIONAL DIABETES; MOTHER TOOK HUMIRA DURING 1ST TRIMESTER, FETAL MRI AT 32 WEEKS GESTATION NOTED AGENESIS OF THE CORPUS COLLOSUM |
| Birth History Information |
| |
Failure to thrive
Caesarian section
|
| Additional Information: |
DELIVERED BY EMERGENCY C-SECTION AT 38.5 WEEKS DUE TO DECELS, FEEDING DIFFICULTIES IN INFANCY; EPISODIC AND UNEXPLAINED FEVERS; AT 7 WEEKS: HEIGHT/LENGTH - 0.00%ILE (WHO), WEIGHT - 1.63%ILE (CDC), HEAD CIRCUMFERENCE - 1.15%ILE (CDC) |
| Dysmorphic Features |
| |
|
| Additional Information: |
HYPOPIGMENTATION |
| Neurological Symptoms |
| |
Corpus callosum abnormalities
|
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
AGENESIS OF CORPUS CALLOSUM |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
CORTICAL IRREGULARITY |
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
NASOGASTRIC (NG) AND ORAL (PO) FEEDING WITH NUTRAMIGEN; DECREASED LIVER FUNCTION, DIARRHEA |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
CONGENITAL HEART DISEASE PRESENTING WITH FEVER, TRICUSPID REGURGITATION, VENTRICULAR HYPERTROPHY; CORONARY ANEURYSM |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
BRAIN AND WHOLE BODY MRI |
| Respiratory and Cardiovascular Testing: |
ECG (ECHOCARDIOGRAM) |
| Metabolic, Hematologic, and Endocrinologic Testing: |
HYPERTRIGLYCERIDEMIA, SERUM FERRITIN, PANCYTOPENIA |
| Uncategorized Testing: |
INCREASED CRP, ESR, CK WITH FEVER |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
G-J TUBE PLACEMENT |
| Medications |
| |
OMEPRAZOLE |
| Family History |
| |
MATERNAL GRANDFATHER HAS HYPERLIPIDEMIA; AUNT DIAGNOSED AT 3 YEARS WITH RHEUM ISSUES; MOTHER HAS RHEUM-RELATED SEIZURES, DIAGNOSED AT 2 YEARS WITH LUPUS |
| Remarks |
See Phenotypic Data tab. Fibro is GM27898. |