| Demographic Data |
| Relation to Proband |
brother |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ROMANIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SANGER SEQUENCING REVEALED A VARIANT IN THE FIG4 GENE, C.21DEL P.(ILE8SERFS*19). |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR AND 4 MONTHS |
| Age at Diagnosis: |
2 YEARS AND 4 MONTHS |
| In Utero History Information |
| |
|
| Additional Information: |
GREEN AMNIOTIC FLUID, DOUBLE CIRCULAR CORD |
| Birth History Information |
| |
Jaundice
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| Neuropathy: |
Peripheral |
| |
Hypotonia
|
| Additional Information: |
MIXED HYPOTONIC SYNDROME WITH CENTRAL AND PERIPHERAL AFFECTION, SIGNIFICANT AXIAL HYPOTONIA, HYPOMOTOR MOVEMENT PATTERN, PLANTAR CUTANEOUS REFLEX IN BILATERAL EXTENSION, SPHINCTER CONTROL NOT ACQUIRED. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Kyphosis
|
| Additional Information: |
BILATERAL ACHILLES RETRACTIONS |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
DEVELOPMENT REGRESSION, ABILITY TO SIT WAS MORE STABLE WHEN ACQUIRED AT 8 MONTHS THAN AT 28 MONTHS. AT AGE 3, AGE OF MOTOR DEVELOPMENT IS CONSISTENT WITH APPROXIMATELY 10 MONTHS AND COGNITIVE DEVELOPMENT IS CONSISTENT WITH AGE 18 MONTHS |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
FREQUENT ACUTE UPPER RESPIRATORY TRACT INFECTIONS, SIALORRHEA |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
SWIM THERAPY, OROFACIAL MASSAGE, USES A WALKING FRAME, RECEIVES MEDEK THERAPY |
| Medications |
| Family History |
| |
2 AFFECTED BROTHERS; 3 HEALTHY SIBLINGS |
| Remarks |
See "Phenotypic Data" tab. Affected brothers are GM30083 and GM30086. |