| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
9 MO |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
NETHERLANDS |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO HETEROZYGOUS MISSENSE MUTATION IN THE FOXG1 GENE (NM_005249.4): C.770T>G (P.LEU257ARG) |
| Zygosity: |
Heterozygous |
| Other variants: |
OTHER VARIANTS OF UNKNOWN CLINICAL SIGNIFICANCE INCLUDE DE NOVO HETEROZYGOUS DNASE1 (NM_005223.3): C.493G>C (P.GLU165GLN, AND X-LINKED HEMIZYGOUS (HETEROZYGOUS IN MOTHER) PCDH11X (NM_032968.4) C.3331G>A (P.ASP1111ASN). A PATHOGENIC MUTATION IN CFTR (NM_000492.3): C.1521_1523DEL (P.PHE508DEL). |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
3 YEARS, 4 MONTHS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Additional Information: |
NO EVIDENT DYSMORPHIC FEATURES; NORMAL HEAD CIRCUMFERENCE |
| Neurological Symptoms |
| |
Hypotonia
Sleep abnormalities
|
| Additional Information: |
NO SEIZURES |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Global developmental delay
|
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
PERFORMING AT AGE 1-1.5 YEARS; NON-VERBAL; WALKS INDEPENDENTLY WHEN PLACED STANDING; CAN'T TRANSITION FROM SITTING TO STANDING |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
SNP ARRAY OF TOTAL GENOMIC DNA FROM BLOOD: NORMAL MALE PROFILE ARR(HG19) (1-22)X2, (X,Y)X1; ANALYSIS OF ROH (REGIONS OF HOMOZYGOUS SNPS WITH A NORMAL COPY NUMBER) SHOWED A NORMAL PATTERN, THERE ARE NO ROH >10MB |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
|
| Medications |
| Family History |
| |
MOTHER ALSO CARRIES A HETEROZYGOUS MUTATION IN PCDH11X: C.3331G>A (P.ASP1111ASN); FATHER ALSO CARRIES THE MUTATION IN CFTR GENE: C.1521_1523DEL (P.PHE508DEL) |
| Remarks |
See Phenotypic Data tab. Mother is GM27435 (LCL) and father is GM27436 (LCL). |