| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 MO |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
4 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NEXT GENERATION SEQUENCING (NGS) WITH A MICROCEPHALY SEQUENCING PANEL REVEALED A PATHOGENIC HETEROZYGOUS AUTOSOMAL DOMINANT MUTATION IN EXON 1 OF THE FOXG1 GENE: C.256DUPC (P.GLN86PROFS*35); CHR:POSITION 14:29236741; ALIGNED TO HG19 |
| Zygosity: |
Heterozygous |
| Other variants: |
HETEROZYGOUS AUTOSOMAL RECESSIVE BENIGN VARIANT OF UNCERTAIN SIGNIFICANCE (VOUS) IN THE KNL1 GENE: C.2503_2505DELGGT (P.GLY835DEL); CHR:POSITION 15:40914887 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
4 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
BRAIN ATROPHY |
| Neurological Symptoms |
| |
Hypertonia
Sleep abnormalities
|
| Additional Information: |
IRRITABILITY |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
|
| Additional Information: |
ACID REFLUX |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| |
PEPCID |
| Family History |
| |
UNAFFECTED MOTHER IS GM27849; UNAFFECTED FATHER IS GM27850 |
| Remarks |
See Phenotypic data tab. Unaffected mother is GM27849; Unaffected father is GM27850. |