| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
NETHERLANDS |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SANGER SEQUENCING REVEALED A VARIANT OF UNKNOWN SIGNIFICANCE IN THE ECHS1 GENE C.268G>A (P.GLY90ARG), EXON 2. |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
SANGER SEQUENCING REVEALED A VARIANT OF UNKNOWN SIGNIFICANCE IN THE ECHS1 GENE C.482C>T (P.ALA161VAL), EXON 4. |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Cerebral palsy
Hypotonia
Basal ganglia damage
|
| Additional Information: |
CENTRAL MOBILITY IMPAIRMENT WITH MILD IMPAIRMENT OF UPPER LIMBS; CENTRAL SPASTIC DIPLEGIA WITH FIXED CONTRACTURE; MYOCLONUS; CHOREIC DYSKINESIAS; MILD PALEOCEREBELLUM MOVEMENT IMPAIRMENT |
| Optical and Audiological Symptoms |
| |
Optic nerve damage
Defective hearing
|
| Additional Information: |
BILATERAL SENSORINEURAL HEARING LOSS AND PARTIAL ATROPHY OF THE OPTIC NERVES BILATERALLY. |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
MOTOR DEVELOPMENT REGRESSION; DYSPRAXIA |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI CONCLUDED BASAL GANGLIA ATROPHY (MORE SIGNIFICANT ON LEFT). |
| Metabolic, Hematologic, and Endocrinologic Testing: |
URINE ORGANIC ACIDS: LACTIC ACIDURIA (1/4), NORMAL PROFIFE (3/4), NORMAL EXCRETION OF 2-METHYL-2,3· DIHYDROXYBUTYRIC ACID AND ACYLGLYCINES IN ALL MEASUREMENTS.
ACYL CARNITINE PROFILES: NORMAL PROFILE (2/2), INCLUDING 3--HYDROXY-BUTYRYL/3-HYDROXY ISOBUTYRYLCARNITINE {C40H). MALONYLCARNITINE (C3DC) AND TIGLYCARNITINE (C5:1). |
| Treatments and Assistive Devices |
| |
Hearing aid
|
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data tab". |