| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
3 MO |
| Age at Diagnosis(If not a control) |
1 YR |
| 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: |
EXOME SEQUENCING REVEALED TWO HETEROZYGOUS, LIKELY PATHOGENIC MUTATIONS IN THE UBA5 GENE (NM_024818.3): C.169 A>G (P.M57V), INHERITED FROM THE MOTHER AND C.935 A>T (P.Q312L) INHERITED FROM THE FATHER |
| Zygosity: |
Heterozygous |
| Other variants: |
A CEREBRAL PALSY SPECTRUM DISORDER PANEL REVEALED TWO HETEROZYGOUS MUTATIONS OF UNCERTAIN SIGNIFICANCE: ONE IN THE AP4S1 GENE C.341G>A (P.TRP114*) AND ANOTHER ON THE COQ7 GENE C.508-8T>G (INTRONIC). MICROARRAY ANALYSIS ALSO REVEALED A VARIANT OF UNKNOWN SIGNIFICANCE: ARR[GRCH37] 4Q13.2Q13.3(6927638_71275343)X1. THE ABNORMALITY IS CHARACTERIZED BY A COPY LOSS OF 63 OLIGONUCLEOTIDE PROBES IN THE LONG ARM OF ONE COPY OF CHROMOSOME 4 FROM Q13.2 TO Q13.3 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 MONTHS |
| Age at Diagnosis: |
1 YEAR |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Cerebral palsy
Dystonia
Hypotonia
|
| Additional Information: |
SPASTIC QUADRIPLEGIA CEREBRAL PALSY; ABNORMAL EEG; FAILURE TO THRIVE; DYSPHAGIA, NEUROLOGICAL MOVEMENT DISORDER, BODY JERKS IN SLEEP |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
CROSSED EYES, ESOPHORIA |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
MILD COXA VALGA WITH NORMAL FEMORAL HEAD COVERAGE |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
STARING SPELLS |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
GERD, VOMITTING, GTUBE DEPENDENT FEEDING |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
TACHYPNEA; CHEST X-RAY REVEALED PATCHY BILATERAL NODULAR OPACITIES, AIRWAY THICKENING, AND PROMINENT PULMONARY ARTERIAL CONTOUR |
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Additional Information: |
BEHAVIORAL INSOMNIA, SNORING, SEVERE DELAYED SLEEP ONSET |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
|
| Additional Testing: |
DIAGNOSTIC PSG, EEG, LARYNGOSCOPY, SPECIAL EYE EVALUATION, REFRACTION |
| Medications |
| |
DIAZEPAM, BACLOFEN |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" tab; LCL sample- GM28942; unaffected carrier parents are GM28856(fibro)/GM28954(LCL) and GM28858 (fibro)/GM28953(LCL) |