| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 YR |
| Sex |
Female |
| 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: |
MANBA: C.1540-1541DEL (P.VAL514CYSFS*10)
MANBA: C.2352_2356DEL (P.THR785LEUFS*27)
|
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Coarse facies
|
| Additional Information: |
DENTITION MISALIGNED BUT NORMATIVE; MILD FACIAL DYSMORPHISM; TORTUOUS CONJUNCTIVAL VESSELS; VACUOLATION; WIDE NASAL BRIDGE; RETROGNATHIA |
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
SEIZURES CONTROLLED BY OXCARBAZEPINE - NO EPISODES FOR 7 YRS; MENTAL RETARDATION; GILLES DE LA TOURETTE SYNDROME; PROGRESSIVE DEMYELINATING PERIPHERAL NEUROPATHY BUT RARE; POSSIBLE SLEEP APNEA |
| Optical and Audiological Symptoms |
| |
Defective hearing
|
| Additional Information: |
INTERMITTENT ALTERNATING EXOTROPIA; BILATERAL MODERATE TO SEVERE HEARING LOSS |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
THENAR ATROPHY BUT RARE; HYPOTONIA |
| Developmental Milestones |
| |
Delayed speech and language development
|
| Additional Information: |
SAYS SINGLE WORDS AND DOES NOT CONJUGATE; IEP IN PLACE AT SCHOOL |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
CONSTIPATION CONTROLLED WITH MIRALAX |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
LACK OF SWEAT AND COLD DIGITALS; ABNORMAL BLOOD PRESSURE |
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Learning disability
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
BEHAVIOR IMPROVED WITH TRILEPTAL; AGGRESSION DUE TO INABILITY TO COMMUNICATE; ADHD CONTROLLED WITH METHYLPHENIDATE; ASD DIAGNOSED 3/28/22 |
| Additional Information |
| Uncategorized Symptoms: |
BRUISES AND SCARS EASILY; ANGIOKERATOMA ON ABDOMEN; ALLERGIC REACTIONS(ITCHING, RASH, AND PRURITIS) TO AUGMENTIN, NEOMYCIN, LATEX, AND NATURAL RUBBER |
| Testing Performed |
| Neurological Testing: |
MRI: LEUKODYSTROPHY INCLUDING MARKED CEREBRAL WHITE MATTER VOLUME LOSS; MILD SUPRATENTORIAL VENTRICULOMETRY AND DIFFUSE WHITE MATTER SIGNAL ABNORMALITY. |
| Treatments and Assistive Devices |
| |
Hearing aid
|
| Surgeries |
ADENOIDECTOMY |
| Medications |
| |
KLONOPIN 0.5MG; PROBIOTIC; LEXAPRO 10MG; RITALIN 10MG; LOESTIN 24 FE; TRILEPTAL |
| Family History |
| Remarks |
See "Phenotypic Data Tab" |