| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| 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: |
ZC4H2, C.124G>T (P.GLU42TER), NONSENSE, EXON 5 |
| Zygosity: |
Heterozygous |
| Other variants: |
SMARCA4, C.3951+2T>C, SPLICING, HETEROZYGOUS |
| 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 |
| |
Caesarian section
|
| Additional Information: |
CONTRACTURES OF HANDS
MARKED HYPERTONIA |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Cerebral palsy
Hypertonia
|
| Additional Information: |
HYPERTONIA AND SPASTICITY OF LOWER EXTREMITIES
RIGID GAIT |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
OPTIC NERVE HYPOPLASIA |
| Musculoskeletal Symptoms |
| |
Skeletal dysplasia
|
| Additional Information: |
ARTHROGRYPOSIS
RESTRICTED LATERAN MOVEMENT OF NECK, TRUNK, SHOULDERS, ELBOWS AND HIPS
ACQUIRED BILATERAL COXA VALGA
SUBLUXATION OF LEFT SHOULDER
HIP DYSPLASIA |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
|
| Sitting Without Assistance: |
Achieved and maintained |
| Additional Information: |
SEVERE DYSARTHRIA |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
NOISY BREATHING DUE TO LARYNGOMALACIA |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
COGNITIVE ASSESSMENT OF YOUNG CHILDREN: AVERAGE |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
|
| Surgeries |
BRACES, GAIT TRAINER, WALKER, MOBILE STANDER |
| Medications |
| |
PHENOL + BOTOX INJECTION TO TREAT SPASTICITY |
| Family History |
| |
MULTIPLE MEMBERS OF THE PATERNAL FAMILY WITH THE SMARCA4 MUTATION ARE ALL ASYMPTOMATIC, AT LEAST FOUR GENERATIONS. |
| Remarks |
Clinically affected; see "Phenotypic Data" tab; positive progression in the last two years; fibroblast is GM28551. De novo heterozygous ZC4H2 mutation c.124G>T (p.E42X). Paternally inherited heterozygous SMARCA4 mutation c.3951+2T>C. Multiple SMARCA4 mutation carriers in the paternal family without clinical symptom. |