| 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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |