| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
1 WK |
| Sex |
Female |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE GENOME SEQUENCING REVEALED A PATERNALLY INHERITED PATHOGENIC VARIANT, IN THE FBXL4 GENE, C.1641_1642DEL, P.CYS547TER, EXON 9, NONSENSE. |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE GENOME SEQUENCING REVEALED A MATERNALLY INHERITED VARIANT OF UNCERTAIN SIGNIFICANCE, IN THE FBXL4 GENE, C.1442T>C, P.LEU481PRO. |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Additional Information: |
INTRAUTERINE GROWTH RESTRICTION, OBSTETRIC ULTRASOUND REVEALED A MEGACISTERNA MAGNA AND ARACHNOID CYST. |
| Birth History Information |
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| Dysmorphic Features |
| |
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| Additional Information: |
LONG TOES AND FINGERS, SMALL FACE, CONGENITAL MACROGNATHIA |
| Neurological Symptoms |
| |
Corpus callosum abnormalities
Hypotonia
Structural brain anomaly
|
| Additional Information: |
ENLARGED CISTERNA MAGNA, ABSENT CORPUS CALLOSUM, BILATERAL CONGENITAL OPTIC NERVE HYPOPLASIA, CEREBELLAR ATAXIA, HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM, FOCAL EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE TYPE 1A, HYPOTONIC CEREBRAL PALSY, DYSAUTONOMIA, OBSTRUCTIVE SLEEP APNEA. |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
BILATERAL AXIAL HYPEROPIA, BILATERAL ASTIGMATISM, BILATERAL HYPERMETROPIA, BILATERAL CORTICAL BLINDNESS, CENTRAL AUDITORY PROCESSING DISORDER, ALTERNATING INTERMITTENT ESOTROPIA, NYSTAGMUS |
| Musculoskeletal Symptoms |
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| Additional Information: |
OSTEOPENIA, OSTEOPOROSIS, PATHOLOGICAL FRACTURE, HIGH ARCHED PALATE |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Additional Information: |
CHRONIC FEEDING DISORDER, GASTROESOPHAGEAL REFLUX DISEASE |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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|
| Additional Information: |
RESPIRATORY FAILURE REQUIRING ASSISTED VENTILATION, ASPIRATOR DEPENDENT, INEFFECTIVE AIRWAY CLEARANCE, SECUNDUM ATRIAL SEPTAL DEFECT, TACHYCARDIA, TACHYPNEA |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Uncategorized Symptoms: |
RECEIVES PALLIATIVE CARE |
| Testing Performed |
| Neurological Testing: |
ABNORMAL BRAIN MRI, MR BRAIN STEM REVEALED DIFFUSELY ABNORMAL WHITE MATTER, RIGHT GERMINAL MATRIX AND RIGHT OCCIPITAL PARENCHYMAL HEMORRHAGES AND ADDITIONAL FOCI OF SUSCEPTIBILITY ARTIFACT IN THE RIGHT FRONTAL AND RIGHT PARIETAL LOBES. |
| Respiratory and Cardiovascular Testing: |
CARDIOMYOPATHY SURVEILLANCE |
| Metabolic, Hematologic, and Endocrinologic Testing: |
METABOLIC TESTING REVEALED PERSISTENT LACTIC ACIDOSIS, HYPERAMMONEMIA, ELEVATED CIRCULATING CREATINE KINASE, NEUTROPENIA |
| Uncategorized Testing: |
ABNORMAL ULTRASOUND OF HEAD |
| Treatments and Assistive Devices |
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| Medications |
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ACETYLCYSTEINE, ALBUTEROL, BUDESONIDE, DIAZEPAM, ENTERAL FORMULA, FAMOTIDINE, GLYCERIN, LACTOBACILLUS RHAMNOSUS, LEVETIRACETAM, LEVOCARNITINE, 5-AMINOLEVULINIC ACID, EPICATECHIN, DICHLOROACETATE, N-ACETYLCYSTEINE, NICOTINAMIDE RIBOSIDE CHLORIDE, NANOVM (MULTIVITAMIN WITH MINERALS), SODIUM BICARBONATE POWDER |
| Family History |
| Remarks |
See "Phenotypic Data" tab. Unaffected mom, who is a carrier is GM29864. Unaffected dad, who is a carrier is GM29865. Unaffected brother is GM30057. |