| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
4 MO |
| 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: |
CLDN11, C.515DEL (P.G172FS), FRAMESHIFT (DE NOVO), EXON 3 |
| Zygosity: |
Heterozygous |
| Other variants: |
MT-ATP6, M.8720G>A (P.G65E), VUS, ~40% HETEROPLASMY |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
4 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Additional Information: |
MICROGNATHIA |
| Neurological Symptoms |
| |
Hypertonia
Hypotonia
|
| Additional Information: |
DYSAUTONOMIA |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
RETROGNATHIA |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
DYSPHAGIA |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
AERODIGESTIVE DISORDERS: LUNG
LARYNGOMALACIA |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
NEUROIRRITABILITY |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
|
| Surgeries |
G-TUBE PLACEMENT
SUPRAGLOTTOPLASTY |
| Additional Testing: |
BRACES
IMMOBILIZER |
| Medications |
| |
BOTOX (PYLORUS, ARMS, HANDS)
GABAPENTIN
CYPROHEPTADINE
FLOVENT
LANSOPRAZOLE
LORAZEPAM
CLONIDINE
ONDANSETRON
ALBUTEROL
OXYGEN
TRIAMCINOLONE |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data Tab" |