| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
0 NB |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
CZECH REPUBLIC |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE-EXOME SEQUENCING REVEALED A DE NOVO AUTOSOMAL DOMINANT HETEROZYGOUS MISSENSE SUBSTITUTION VARIANT IN THE CHAMP1 GENE, C.1642C>T (P.ARG548CYS). |
| Zygosity: |
Heterozygous |
| Other variants: |
ALL HETEROZYGOUS: ROBO3 C.769C>T (P.ARG257CYS); COL23A1 C.1112_1113DEL (P.LYS371ARGFS*15); DGCR8 C.2191A>G (P.11E731VAL); ALG1 C.440C>T (P.SER147LEU); VWF C.2561G>A (P.ARG854GLN); HFE C.187C>G (P.HIS63ASP); TNFRSF13B C.204DUPA (P.LEU69THRFS*12); OF UNKNOWN HETEROZYGOSITY IS ANO5 C.689G>T (P.GLY230VAL). |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Additional Information: |
MOTHER GROUP B STREPTOCOCCUS POSITIVE, WITHOUT SUFFICIENT PROPHYLAXIS |
| Birth History Information |
| |
Difficulty breathing
Caesarian section
|
| Additional Information: |
AMNIOTIC FLUID LEAKAGE; BREECH; HYPOXIA; POSTPARTUM ATONY; PALLOR, BREATHLESSNESS; BRADYCARDIA; STRIDOR AND ASPIRATIONS FROM UPPER AIRWAY WITH THICK YELLOW MUCUS; INSUFFLATIONS; TACHYDYSPNEA; RHINOVIRUS INFECTION AS BIRTH; EPISODES OF DESATURATION; PEG TUBE INSERTED FOR FEEDING |
| Dysmorphic Features |
| |
Strabismus
Cleft palate
Microcephaly
|
| Additional Information: |
PIERRE-ROBIN SYNDROME; STIGMATA; STICKLER SYNDROME; RECEDING/MICRO MANDIBULA; RETRACTED TONGUE ROOT; HIGH/ARCHED PALATE; NARROW PALPEBRAL FISSURES; DYSMORPHIC CREASE ON LOWER LIP; CORNUATE EPIGLOTTIS; STRABISMUS (BORDERLINE PREFERENTIAL VISION); HYPOMIMIA; BULBAR PALSY; HEAD CIRCUMFERENCE IS WITHIN THE 0TH PERCENTILE FOR AGE AND 1ST PERCENTILE FOR HEIGHT; SMALLER YET NORMOSTHENIC STATURE; LOW SET EARS AND WELL SHAPED; NORMAL NOSE WITH WIDER COLUMELLA; PHILTRUM NORMAL AND SHORT; PROMINENT LIPS TURNED OUTWARD; RECEDING CHIN; ARACHNODACTYLY HANDS; SOME OVERLAPPING OF TOES ON LEFT FOOT; ROCKER-BOTTOM FEET. |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
DELAYED PSYCHOMOTOR DEVELOPMENT, BUT PROGRESSING; ABLE TO HOLD BALANCE AT TIMES AND WALK A FEW STEPS INDEPENDENTLY; BULBAR SYNDROME |
| Optical and Audiological Symptoms |
| |
Defective vision
Nystagmus
|
| Additional Information: |
NORMAL EYE EXAM; MUTISM; 3RD DEGREE BILATERAL HORIZONTAL NYSTAGMUS; OCULOMOTOR NERVE DISORDER; NORMAL HEARING BY NON-PERFORMABLE BERA TEST |
| Musculoskeletal Symptoms |
| |
Skeletal dysplasia
|
| Additional Information: |
LARSEN SYNDROME; BILATERAL HIP DYSPLASIA/HYPERABDUCTION; KNEE DYSPLASIA; SPASTIC POSTURE OF UPPER LIMBS; PARADOXICAL VOCAL CORD MOVEMENTS |
| Developmental Milestones |
| |
Delayed speech and language development
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
|
| Additional Information: |
HEIGHT WITHIN 5TH PERCENTILE; WEIGHT WITHIN 59TH PERCENTILE |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
NORMAL ABDOMINAL ULTRASOUND |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
ECHO WITH TRICUSPID INSUFFICIENCY AND WITHOUT STRUCTURAL DEFECT; TRACHEOSTOMY CANNULA WITH A LOT OF MUCUS |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
SUSPECTED ELEVATED PAIN THRESHOLD; OCCASIONALLY PASSIVE; MINOR STEREOTYPIES WITH DIGITALS |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
ABNORMAL BASELINE EEG WITH SHARP STEEP WAVES OF BIT LEFTWARD AND ABSENT ICTAL PATTERNS; CONTROL EEG WITH POOR LOW VOLTAGE ACTIVITY, SHARP WAVES, AND RHYTHMIC DELTA WAVES; SEQUENTIAL SLEEP WITH TRANSIENTS NREM II WITH NO CLEAR LESION OR EPILEPTIFORM GRAPH ELEMENTS; NO CENTRAL APNEA; NORMAL CNV ULTRASOUND; MRI NORMAL AND SHOWED LOWER MYELINATION IN PERIROLANDIC REGION - 7 MONTHS LATER MRI DISPLAYED SLIGHT PROGRESSION OF THE WIDTH OF THE FRONTAL HORNS OF THE LATERAL VENTRICLES BILATERALLY WITH POSSIBLE MILD PERIVENTRICULAR ATROPHY |
| Optical and Audiological Testing: |
NORMAL EYE EXAM AND CATARACT SCREEN. |
| Treatments and Assistive Devices |
| |
Speech therapy
|
| Medications |
| Family History |
| |
HEALTHY MOTHER, FATHER, AND SIBLING; POSITIVE HISTORY OF TRANSLOCATION IN PATERNAL AUNT, UNCLE, AND COUSIN; PATERNAL GRANDFATHER NORMAL KARYOTYPE |
| Remarks |
See "Phenotypic Data Tab". mother (GM29352) is unaffected carrier, father (GM29661) is unaffected carrier, and healthy sibling (GM29662). Negative maternal family history; Positive family history in paternal aunt, uncle, and cousin. Normal karyotype on paternal grandfather. |