| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| 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 REVEALED A DE NOVO MUTATION IN WDR45 C.660DELC (P.F221LFSX67) |
| Zygosity: |
Other |
| Other variants: |
HOMOPLASMIC MITOCHONDRIAL VARIANT OF UNKNOWN SIGNIFICANCE AT LOCUS MT-RNR2, M.1821A>G; VARIANT OF UNKNOWN SIGNIFICANCE: TSC2 C.3495A>T (P.LYS1165ASN); HOMOZYGOUS SNP IN ACAT1: ACAT1-02 (C.22670G>A) [RS3741049], HOMOZYGOUS SNP IN BHMT: BHMT-08 (C.6457C>T) [RS651852] |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5-6 MONTHS |
| Age at Diagnosis: |
2.5 YEARS |
| In Utero History Information |
| |
|
| Additional Information: |
MOTHER HAD HYPERTENSION, PRE-ECLAMPSIA, BLEEDING, INFECTIONS, DIABETES, ON METFORMIN |
| Birth History Information |
| |
Caesarian section
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
CENTRAL HYPOTONIA; TRUNCAL HYPOTONIA WITH NORMAL TONE IN EXTREMITIES; INFANTILE SPASMS; MRI REVEALED ABNORMAL FLAIR/T2; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; GENERALIZED EPILEPSY, INTRACTABLE |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
MYOPIA; ASTIGMATISM |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
PRECOCIOUS PUBERTY |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
INTERMITTENT HYPERVENTILATION |
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information: |
SELF STIMULATORY BEHAVIOR (E.G. BITING RIGHT THUMB) |
| Additional Information |
| Uncategorized Symptoms: |
RECURRENT SINUS INFECTIONS; BASAL GANGLIA DISORDER; |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
ELEVATED DHEA; MILD INCREASE IN 3-OH BUTYRIC AND 3-OH-ISOVALERIC; ELEVATED AST; ELEVATED BLOOD KETONES; |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Communication or learning devices
|
| Additional Testing: |
ABA THERAPY |
| Medications |
| |
EPIDIOLEX; ZONISAMIDE; CYPROHEPTADINE; AZITHROMYCIN |
| Family History |
| |
MATERNAL AUNT HAS HASHIMOTO'S DISEASE; MATERNAL GRANDPARENTS ARE 1ST COUSINS |