| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
33 MO |
| Sex |
Male |
| Age of Onset(If not a control) |
5 MO |
| Age at Diagnosis(If not a control) |
18 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asian |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WDR45, C.752_754DELCCT, P.SER251DEL, EXON 10 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5 MONTHS |
| Age at Diagnosis: |
1.5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
LEFT CRANIAL NERVE IV PALSY |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
MYOPIA |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
G-TUBE PLACEMENT
FEEDING THERAPY
BRACES |
| Medications |
| |
FAMOTIDINE |
| Family History |
| Remarks |
Clinically affected; see "Phenotypic Data" tab.
1.5 year old male showing a global developmental delay and eating disorder. Diagnosed with a WDR45 mutation via trio exome sequencing; c.752_754delCCT(p.Ser251del). Associated with Beta-propeller protein-associated neurodegeneration (BPAN), an X-linked condition characterized by infantile-onset developmental delay. GM28219 is a blood sample from the same subject. |