| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
9 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
POLAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SURF1. C.845_846DELCT (P.SER282FS), FRAMESHIFT |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
3.5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Additional Information: |
DEFORMITY OF THE CHEST |
| Neurological Symptoms |
| |
Corpus callosum abnormalities
Hypotonia
Unstable gait
White matter issues
|
| Additional Information: |
GENERALIZED MUSCLE FLACCIDITY |
| Optical and Audiological Symptoms |
| |
Defective vision
Optic disk palor
Optic nerve damage
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
|
| Sitting Without Assistance: |
Achieved and maintained |
| Additional Information: |
INHIBITION OF WEIGHT AND HEIGHT GAIN AT 6 MONTHS, DIFFICULTIES IN WALKING ON HER OWN, FOLLOWED BY DIFFICULT AND SLOW SPEECH
SITS ALONE, STANDS ALONE, CRAWL
CAN TALK AND READ |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
ABNORMAL BREATH PATTERN WITH PERIODS OF HYPERVENTILATION |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
WENT TO PRIMARY SCHOOL TO SECOND GRADE |
| Testing Performed |
| Neurological Testing: |
MRI: HYPOPLASIA OF CORPUS CALLOSUM AND PATHOLOGICAL SIGNALS IN THE CORTICOSPINAL AND CORTICOCEREBELLAR TRACTS. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
Orthotics
|
| Surgeries |
USE GORSET
GASTROSTOMY |
| Medications |
| |
VITAMINS |
| Family History |
| Remarks |
Clinically affected; See "Phenotypic Data" Tab; unaffected carrier mother is GM28073 (fibro). |