| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
0 YR |
| Age at Diagnosis(If not a control) |
4 YR |
| 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: |
WHOLE EXOME SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS AUTOSOMAL DOMINANT PATHOGENIC VARIANT (C.5000G>C) IN THE CACNA1A GENE (NM_001127221.1) RESULTING IN A MISSENSE MUTATION (P.ARG1667PRO); ALIGNED TO HUMAN GENOME BUILD GRCH37; NEXT GENERATION SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS AUTOSOMAL RECESSIVE PATHOGENIC VARIANT (C.1733DEL) IN THE MANBA GENE (NM_005908.3) RESULTING IN A FRAMESHIFT MUTATION (P.ASN578ILEFS*47) |
| Zygosity: |
Heterozygous |
| Other variants: |
NEXT GENERATION SEQUENCING ANALYSIS OF GENOMIC DNA ALSO REVEALED A HETEROZYGOUS AUTOSOMAL RECESSIVE VARIANT [C.987-15C>G (P.?)] OF UNKNOWN SIGNIFICANCE IN THE IQCB1 GENE (NM_001023570.2), A HETEROZYGOUS AUTOSOMAL RECESSIVE VARIANT [C.1325T>G (P.VAL442GLY)] OF UNKNOWN SIGNIFICANCE IN THE KIAA0226 GENE (NM_014687.2) AND A HETEROZYGOUS AUTOSOMAL RECESSIVE VARIANT [C.844G>A (P.GLY282SER)] OF UNKNOWN SIGNIFICANCE IN THE FA2H GENE (NM_024306.4) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
4 YEARS OLD |
| In Utero History Information |
| |
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
|
| Additional Information: |
No Data |
| Birth History Information |
| |
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
|
| Additional Information: |
No Data |
| Dysmorphic Features |
| |
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
|
| Additional Information: |
No Data |
| Neurological Symptoms |
| Neuropathy: |
No Data |
| |
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
|
| Additional Information: |
THINNING OF THE CORPUS COLLOSUM; SMALL CEREBELLUM, BRAIN STEM, PONS AND ENLARGEMENT OF THE EXTRA AXIAL SUBARACHNOID SPACES |
| Optical and Audiological Symptoms |
| |
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
|
| Additional Information: |
No Data |
| Musculoskeletal Symptoms |
| |
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
|
| Additional Information: |
No Data |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
|
| Holding Head Up Without Assistance: |
No Data |
| Sitting Without Assistance: |
No Data |
| Walking Without Assistance: |
No Data |
| Running: |
No Data |
| Additional Information: |
No Data |
| Gastrointestinal Symptoms |
| |
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
|
| Additional Information: |
No Data |
| Genitourinary Symptoms |
| |
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
|
| Additional Information: |
No Data |
| Respiratory and Cardiovascular Symptoms |
| |
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
|
| Additional Information: |
No Data |
| Cognitive and Behavioral Symptoms |
| |
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
|
| Intellectual Disability: |
No Data |
| Additional Information: |
No Data |
| Additional Information |
| Uncategorized Symptoms: |
No Data |
| Testing Performed |
| Neurological Testing: |
MRI - PONTOCEREBELLAR HYPOPLASIA, ATROPHY OF THE CEREBELLUM; ABNORMAL MYELINATION IN THE CEREBELLUM, WITH GLIOTIC WHITE MATTER; ATROPHY OF THE PONS; DEFICIT OF NAA IS DETECTED IN THE PONS AND SUPERIOR CEREBELLAR VERMIS |
| Optical and Audiological Testing: |
No Data |
| Musculoskeletal and Developmental Testing: |
EMG - NORMAL |
| Respiratory and Cardiovascular Testing: |
No Data |
| Cognitive and Behavioral Testing: |
No Data |
| Metabolic, Hematologic, and Endocrinologic Testing: |
No Data |
| Uncategorized Testing: |
No Data |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
|
| Surgeries |
No Data |
| Additional Testing: |
No Data |
| Medications |
| |
ACETAZOLAMIDE; GABAPENTIN |
| Family History |
| |
MOTHER, FATHER, AND SIBLING DO NOT CARRY THE DE NOVO MUTATION IN CACNA1A GENE |
| Remarks |
See "Phenotypic Data" Tab; unaffected mother is GM28365 (lymph); unaffected father is GM28366 (lymph). |