| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
0 NB |
| Age at Diagnosis(If not a control) |
8 MO |
| 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 A LIKELY PATHOGENIC VARIANT IN THE EPG5 GENE, C.310_311DUP(P.GLU105ARGFS*29), PATERNALLY INHERITED, EXON 2. |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED A LIKELY PATHOGENIC VARIANT IN THE EPG5 GENE, C.1777_1781DEL(P.GLY593*), MATERNALLY INHERITED, EXON 8. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
8 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Additional Information: |
SHORT STATURE |
| Neurological Symptoms |
| |
Hypotonia
Seizures
Structural brain anomaly
|
| Additional Information: |
DYSPHAGIA, CONTRACTURES, CENTRAL APNEA |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
MUSCULAR HYPOTONIA, HIP DYSPLASIA |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
G-TUBE FOR FEEDING, INFLAMMATORY BOWEL DISEASE. |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
OXYGEN DEPENDENT, RECURRENT RESPIRATORY INFECTIONS |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
IMMUNE DYSREGULATION |
| Testing Performed |
| Neurological Testing: |
MR BRAIN WITHOUT CONTRACT REVEALED INDETERMINANT T2/FLAIR HYPERINTENSITY WITH ASSOCIATED RESTRICTED DIFFUSION IN THE RIGHT FRONTAL LONE, WHICH MAY REFLECT INTRAMYELINIC EDEMA. PROGRESSION OF CEREBELLAR VOLUME LOSS SINCE PREVIOUS MRI. THORACOLUMBAR SCOLIOSIS. ABSENT CORPUS CALLOSUM, INFERIOR CEREBELLAR VERMIAN HYPOPLASIA, AND ATRETIC BRAINSTEM |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Hearing aid
glasses
|
| Additional Testing: |
NORMAL CHROMOSOMAL MICROARRAY, NORMAL SMA BY DEL/DUP |
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |