| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
23 MO |
| Sex |
Male |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
8 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GENETIC TESTING REVEALED A PATHOGENIC VARIANT IN THE DHX30 GENE, C.2344C>T P.ARG782TRP. |
| Zygosity: |
Heterozygous |
| Other variants: |
GENETIC TESTING ALSO IDENTIFIED CARRIER STATUS FOR AUTOSOMAL RECESSIVE ALPHA-THALASSEMIA: PATHOGENIC, 16P13.3P13.3, 19.30 KB DELETION, HETEROZYGOUS, AND CARRIER STATUS FOR MITOCHONDRIAL COMPLEX I DEFICIENCY AND LEIGH SYNDROME (LS):
PATHOGENIC, NDUFS1, C.64C>T P.ARG22TER, HETEROZYGOUS AND A VARIANT OF UNCERTAIN SIGNIFICANCE IN THE PIGM GENE, C.1159_1160DEL P.LEU387VALFSTER36 HETEROZYGOUS. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
8 MONTHS |
| In Utero History Information |
| |
Intrauterine growth restriction
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Cleft palate
|
| Additional Information: |
BIFID UVULA |
| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Intellectual Disability: |
Moderate |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. Unaffected mother is GM30118. |