| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
21 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
20 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Country |
THAILAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WGS REVEALED A MISSENSE MUTATION IN EXON 1 OF THE FOXG1 GENE NM_005249.4: C.644T>C ( P.PHE215SER), G.292371209T>C, CHR14GRCH37 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS; DIAGNOSED BY A GENETICIST |
| Age at Diagnosis: |
20 MONTHS |
| In Utero History Information |
| |
Fetal growth issues
|
| Additional Information: |
BORN AT 39 WEEKS GA; AT 35-39 WEEKS, FETUS AND MOTHER HAD POOR WEIGHT GAIN; BW: 2560 G, HC: 37 CM, HEIGHT: 51 CM |
| Birth History Information |
| |
|
| Additional Information: |
TROUBLE WITH FEEDING; POOR WEIGHT GAIN; HC 43.5 CM, HEIGHT 83 CM, WEIGHT 10 KG; (AT 6 MONTHS, HC WAS 39 CM, <1 PERCENTILE) |
| Dysmorphic Features |
| |
Strabismus
Microcephaly
|
| Additional Information: |
NO DYSMORPHIC FEATURES; OCCASIONAL STRABISMUS; NO NYSTAGMUS |
| Neurological Symptoms |
| |
Hypotonia
Sleep abnormalities
|
| Additional Information: |
TRUNCAL HYPOTONIA; NO SEIZURES |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
TRIGGER FINGER - 3RD PIP FLEXION CONTRACTURE, 4TH PIP FLEXION CONTRACTURE |
| Developmental Milestones |
| |
Global developmental delay
|
| Sitting Without Assistance: |
Achieved and maintained |
| Additional Information: |
DEVELOPMENT IS THAT OF A 6-7 MONTH OLD |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
NO HEPATOSPLENOMEGALY |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
NO SPEECH |
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
AT 7 MONTHS, BRAIN MRI SHOWED DELAYED MYELINATION, SUGGESTIVE OF HYOMYELINATION DISORDER; THINNING OF ANTERIOR CALLOSAL BODIES AND MILDLY PROMINENT LATERAL VENTRICLES; SUSPECTED MILD INFERIOR VERMIAN HYPOPLASIA; UNREMARKABLE BRAIN MRS |
| Metabolic, Hematologic, and Endocrinologic Testing: |
NO ABNORMAL METABOLIC PROFILE FINDINGS; NORMAL CALCIUM AND THYROID FUNCTION TESTS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
Communication or learning devices
|
| Medications |
| Family History |
| |
BORN TO NON-CONSANGUINEOUS PARENTS; NEITHER PARENT HAS THE MUTATION; FAMILY HISTORY: DECEASED PATERNAL GRANDMOTHER HAD LYMPHOMA, PATERNAL AUNT HAD CLEFT LIP, MATERNAL GRANDMOTHER HAD CEREBRAL ANEURYSM |
| Remarks |
Clinically affected; See Phenotypic Data tab. |