| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 MO |
| Sex |
Male |
| Age of Onset(If not a control) |
4 MO |
| Age at Diagnosis(If not a control) |
6 MO |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING (WES) REVEALED A DE NOVO PATHOGENIC HETEROZYGOUS AUTOSOMAL DOMINANT MUTATION IN FOXG1 (NM_005249.4): C.507DEL (P.GLY169GLYFS*23) |
| Zygosity: |
Heterozygous |
| Other variants: |
HETEROZYGOUS PATERNALLY-INHERITED AUTOSOMAL RECESSIVE MISSENSE MUTATION IN USH2A (NM_206933.2): C.908G>A (P.ARG303HIS); CLINVAR ID: 264411; HIGHEST ALLELE FREQUENCY IN A GNOMAD POPULATION: 0.0064%, EUROPEAN (NON-FINNISH) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
4 MONTHS |
| Age at Diagnosis: |
6 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
COLIC IN FIRST 5 MONTHS |
| Dysmorphic Features |
| |
Strabismus
Microcephaly
|
| Additional Information: |
INTERMITTENT STRABISMUS, SINGLE TRANSVERSE PALMAR CREASE; SMALL FACE |
| Neurological Symptoms |
| |
Sleep abnormalities
|
| Additional Information: |
MOVEMENT DISORDER; SLEEP DISTURBANCE; HORIZONTAL NYSTAGMUS |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
MILD PHOTOPHOBIA |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
Delayed fine motor skills
|
| Additional Information: |
IMPAIRED SMOOTH PURSUIT |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
ABNORMALITY OF THE PENIS (CURVATURE) |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
IRRITABILITY |
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
EEG SHOWED GENERALIZED SLOWING; HEAD MRI SHOWED THINNING OF CORPUS CALLOSUM AND REDUCED WHITE MATTER |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| Family History |
| |
FATHER (NOT IN REPOSITORY) CARRIES THE MUTATION IN USH2A C.908G>A (P.ARG303HIS) |
| Remarks |
See Phenotypic Data tab. Same donor as GM28575 (iPSC) |