| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
5 MO |
| Age at Diagnosis(If not a control) |
14 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Caucasian |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
ECHS1: C.518C>T (P.ALA173VAL)
ECHS1: C.523G>A (P.GLY175SER) |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5 MONTHS |
| Age at Diagnosis: |
14 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Dystonia
Hypertonia
Hypotonia
Sleep abnormalities
|
| Additional Information: |
ABNORMAL BRAIN MRI - BASAL GANGLIA INTENSITY; ABNORMAL CEREBRAL WHITE MATTER MORPHOLOGY, CEREBRAL ATROPHY, ABNORMAL MIDBRAIN MORPHOLOGY; OBSTRUCTIVE SLEEP APNEA |
| Optical and Audiological Symptoms |
| |
Nystagmus
Defective hearing
|
| Additional Information: |
ABNORMAL AND UNCONTROLLED EYE MOVEMENT, RETINOPATHY, PTOSIS, AND OPTIC ATROPHY |
| Musculoskeletal Symptoms |
| |
Non-ambulatory
|
| Additional Information: |
SPASTICITY, BABINSKI; ABNORMAL UPPER AND LOWER LIMBS; HIP DISLOCATION; ACETABULAR DYSPLASIA; ABNORMAL JOINT MORPHOLOGY |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
NON-VERBAL |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
GASTROESOPHAGEAL REFLUX |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
HYPOVENTILATION |
| Cognitive and Behavioral Symptoms |
| |
|
| Intellectual Disability: |
Severe |
| Additional Information |
| Uncategorized Symptoms: |
SUPERNUMERARY NIPPLE; BRUXISM |
| Testing Performed |
| Neurological Testing: |
MRI - SUGGESTIVE OF LEIGH OR METABOLIC ENCEPHALOPATHY - BASAL GANGLIA, WHITE MATTER ABNORMALITIES. |
| Metabolic, Hematologic, and Endocrinologic Testing: |
HEMATEMESIS; ABNORMAL METABOLISM/HOMEOSTASIS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
|
| Surgeries |
G-TUBE |
| Additional Testing: |
CPAP, VISION THERAPY |
| Medications |
| |
DOJOLVI, LEUCOVORIN, NAC, B1, B2, BIOTIN, L-CARNITINE |
| Family History |
| Remarks |
See "Phenotypic Data" tab |