| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
18 MO |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
AUSTRALIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
PATHOGENIC VARIANTS IN SURF1, NM_003172.3: C.351T>G (P.TYR117*), C.312_321 DEL10INSAT(P.LEU105SERFS*14) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
18 MONTHS |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
MOTHER INDUCED AT 38 WEEKS DUE TO PREGNANCY-INDUCED HYPERTENSION |
| Dysmorphic Features |
| |
|
| Additional Information: |
BILATERAL PTOSIS (RESOLVED AT 3 YRS); HYPERTRICHOSIS |
| Neurological Symptoms |
| |
Ataxia
Hypotonia
Unstable gait
White matter issues
|
| Additional Information: |
UNSTABLE WALK, BROADBASED GAIT, TREMOR |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Additional Information: |
VERTICAL NYSTAGMUS |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SHORT STATURE |
| Developmental Milestones |
| |
Delayed speech and language development
Abnormal height for age
Abnormal weight for age
|
| Sitting Without Assistance: |
Achieved but not maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Additional Information: |
SOME CRAWLING; AFTER SEPSIS (STREP A) AT 3 YEARS: LOST ABILITY TO WALK/SIT/STAND UNAIDED, MORE HYPOTONIC, LOST HEAD AND FINE MOTOR CONTROL, HAD TREMORS, DROOLED; NOW: SITS SUPPORTED, DEVELOPMENTAL GAINS, GOOD FINE MOTOR FUNCTION, CLIMBS |
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
|
| Additional Information: |
REFLUX, MILD-MODERATE OROPHARYNGEAL DYSPHAGIA |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Happy personality
|
| Additional Information: |
EXTREMELY SOCIABLE |
| Additional Information |
| Uncategorized Symptoms: |
AT 3 YEARS, WEIGHT: 3RD TO 5TH %ILE, HEIGHT: 2ND %ILE, HEAD CIRCUMFERENCE: 45TH %ILE; FULL EYE MOVEMENTS BUT HAD VERTICAL NYSTAGMUS, VISUALLY AWARE, BROAD-BASED GAIT, NEGATIVE GOWERS SIGN; REASONABLE STRENGTH, DEPRESSED KNEE AND ANKLE RELEXES, SHORT STATURE |
| Testing Performed |
| Neurological Testing: |
MRI |
| Optical and Audiological Testing: |
GOOD HEARING; HORIZONTAL NYSTAGMUS, RIGHT AND LEFT GAZE, AND VERTICAL NYSTAGMUS AT 5 YEARS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
|
| Additional Testing: |
GAIT TRAINER; STANDING FRAME; IMPROVED SPEECH AND FINE MOTOR SKILLS WITH THERAPY |
| Medications |
| |
RIBOFLAVIN, THIAMINE, CO-ENZYZME, OMEPRAZOLE, OCCASIONAL GAVISCON, VITAMIN E, ALPHA-LIPOIC ACID, BIOTIN, FOLINIC ACID, VITAMIN C, VITAMIN D, PROBIOTIC, MULTIVITAMIN, PEDIASURE |
| Family History |
| Remarks |
See "Phenotypic Data" tab |