| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
4 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WES TESTING REVEALED AN X-LINKED DE NOVO HETEROZYGOUS PATHOGENIC DE NOVO VARIANT IN EXON 9 OF THE WDR45 GENE (NM_007075.3): C.729-1G>A (IVS9-1G>A) |
| Zygosity: |
Heterozygous |
| Other variants: |
DE NOVO HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE FOUND IN EXON 22 OF THE MED12L GENE (NM_053002.4): C.3280 C>T (P.R1094X, CGA>TGA) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6-8 MONTHS OLD |
| Age at Diagnosis: |
4 YEARS OLD; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Additional Information: |
UNEVENTFUL PREGNANCY WITH NO COMPLICATIONS PRE OR POST-DELIVERY |
| Birth History Information |
| |
|
| Additional Information: |
FEEDING ISSUES EARLY ON IN LIFE |
| Dysmorphic Features |
| |
|
| Additional Information: |
DYSMORPHIC FEATURES; ANTEVERTED NARES AND DEPRESSED NASAL ROOT, MICROGNATHIA |
| Neurological Symptoms |
| |
Ataxia
Hypotonia
Seizures
Sleep abnormalities
|
| Additional Information: |
APRAXIA, EPILEPSY, WIDE ATAXIC GAIT, MILD CEREBRAL ENCEPHALOPATHY, ATROPHY, ABNORMAL INVOLUNTARY MOVEMENT |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
HIGH MYOPIA, OPTIC ATROPHY |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
IDD, NO EXPRESSIVE LANGUAGE (NO SPEECH) |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
ABDOMINAL PAIN, UNEXPLAINED WEIGHT GAIN |
| Genitourinary Symptoms |
| |
|
| Additional Information: |
URINARY INCONTINENCE |
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
HYPERVENTILATION |
| Cognitive and Behavioral Symptoms |
| |
Anxiety
Autism spectrum disorder
Sleep disturbances
Learning disability
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
AGITATION, SLEEP APNEA, BREATH HOLDING, DIFFICULTY SPEAKING; NEURODEGENERATIVE DISORDER |
| Additional Information |
| Uncategorized Symptoms: |
BRUXISM |
| Testing Performed |
| Neurological Testing: |
MRI: MILD CEREBRAL ATROPHY; EEG (MULTIPLE): ABNORMAL ELECTRICAL CHARGES, NO SEIZURE ACTIVITY |
| Optical and Audiological Testing: |
ERG: NORMAL ELECTRORETINOGRAPHY |
| Metabolic, Hematologic, and Endocrinologic Testing: |
LOW SERUM IGA AND IGM LEVELS; ELEVATED LIVER ENZYMES |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY, APPLIED BEHAVIOR ANALYSIS, ITDS, MUSIC THERAPY, AND SWIMMING |
| Medications |
| |
CBD WHOLE HEMP; CANNABIDIOL |
| Family History |
| |
NEITHER PARENT CARRIES THE VARIANTS FOUND IN THIS INDIVIDUAL. |
| Remarks |
See Phenotypic Data tab. |