| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Racial Category |
White |
| Country |
SPAIN |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NGS PANEL TESTING REVEALED A DE NOVO HETEROZYGOUS PATHOGENIC DE NOVO VARIANT IN FOXG1 GENE: C.506DELG (P.GLY169ALAFS*23) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
Intrauterine growth restriction
|
| Additional Information: |
IUGR SINCE 20TH WEEK, SUSPICIOUS OF CORPUS CALLOSUM HYPOPLASIA |
| Birth History Information |
| |
|
| Additional Information: |
VAGINAL DELIVERY AT WEEK 37 WITHOUT COMPLICATIONS; APGAR 9/9 WITHT AT BIRTH: 3360 G (P90, 1.31 SD) LENGTH 49 CM (P71, 0.57 SD), CC: 34 CM (P65, 0.39 SD) |
| Dysmorphic Features |
| |
Strabismus
Microcephaly
|
| Additional Information: |
CONVERGENT STRABISMUS; THIN LIPS |
| Neurological Symptoms |
| |
Cerebral palsy
Hypotonia
|
| Additional Information: |
DYSKINETIC CEREBRAL PALSY; POSTERIOR TRUNK HYPERTRICHOSIS, DISTAL FLUCTUANT TONE, DORSAL KYPHOSIS WHEN SEATED |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Sitting Without Assistance: |
Not achieved and not maintained |
| Additional Information: |
PSYCHOMOTOR DEVELOPMENT AT 3 YEARS OF AGE; INCOMPLETE HEAD CONTROL |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
FOCAL CRISIS AND DYSTONIC-DYSKINETIC NON-EPILEPTIC PAROXYSMAL EVENTS |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
CEREBRAL MRI: LOSS OF SUPRATENTORIAL WHITE MATTER AND CORTICAL BILATERAL PARIETAL-TEMPROAL-OCCIPITAL ALTERATIONS WITH FEATURES RESEMBLING PACHYGYRIA |
| Optical and Audiological Testing: |
ENT: NORMAL AUDITORY EVOKED POTENTIALS AND OTOACOUSTIC EMISSIONS |
| Cognitive and Behavioral Testing: |
EEG: NO EPILEPTIFORM ACTIVITY |
| Metabolic, Hematologic, and Endocrinologic Testing: |
METABOLIC: NORMAL AMINO ACIDS ORGANIC ACIDS (SERUM, CSF, URINE) |
| Uncategorized Testing: |
BMI: 10 KG/M2; CGH ARRAYS: NORMAL; PCR FOR CMV DETECTION (DRY BLOOD, NEONATAL SCREEN) NEGATIVE |
| Treatments and Assistive Devices |
| |
|
| Medications |
| |
LEVETIRACETAM, LACOSAMIDE, VITAMIN3 D3, PIRIDOXINE |
| Family History |
| |
NON-CONSANGUINEOUS PARENTS; NGS REVEALED THAT NEITHER PARENT HAS THE FOXG1 VARIANT. |
| Remarks |
See Phenotypic Data tab; lymph is GM27852; unaffected parents: mother is GM27853 (lymph), father is GM27864 (lymph). |