If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
5
|
2
|
9
|
0 |
0 |
15
|
Gene and significance breakdown #
Total genes and gene combinations: 15
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Aggressive behavior; Frequent falls; Delayed speech and language development; Intellectual disability, mild
|
0 |
0 |
1
|
1
|
Aggressive behavior; Frequent falls; Difficulty walking; Prolonged neonatal jaundice; Intellectual disability, severe
|
0 |
0 |
1
|
1
|
Arthritis, sacroiliac; Scoliosis; Arthritis; Inflammation of the large intestine; Kyphosis; Low back pain; Sacroiliac joint synovitis; Enthesitis; Synovitis
|
1
|
0 |
0 |
1
|
Bilateral sensorineural hearing impairment; Axial hypotonia; Delayed speech and language development; Progressive sensorineural hearing impairment; Abdominal distention; Loss of consciousness; Progressive gait ataxia; Atypical absence seizure
|
0 |
0 |
1
|
1
|
Bilateral sensorineural hearing impairment; Delayed speech and language development; Intellectual disability, moderate
|
1
|
0 |
0 |
1
|
Cryptorchidism; Developmental cataract; Hypertrichosis; Abnormal corpus callosum morphology; Bilateral microphthalmos; Low-set ears; Spasticity; Absent speech; Rigidity; Thoracolumbar scoliosis; Humeral cortical thickening; Cortical thickening of humeral diaphysis; Cerebral hypomyelination; Congenital ptosis; Infantile axial hypotonia; Intellectual disability, severe; Cleft palate; Movement disorder
|
1
|
0 |
0 |
1
|
Cryptorchidism; Fetal growth restriction; Febrile seizure (within the age range of 3 months to 6 years); Functional abnormality of male internal genitalia; Microcephaly; Intellectual disability; Delayed gross motor development; Hyperammonemia
|
1
|
0 |
0 |
1
|
Dysphagia; Irritability; Delayed speech and language development; Gait imbalance; Difficulty walking; Limb dystonia
|
0 |
0 |
1
|
1
|
Generalized myoclonic seizure
|
0 |
0 |
1
|
1
|
Hearing impairment; Bilateral sensorineural hearing impairment
|
0 |
1
|
0 |
1
|
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
0 |
0 |
1
|
1
|
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
0 |
0 |
1
|
1
|
Neuronal ceroid lipofuscinosis 3
|
0 |
1
|
0 |
1
|
Skeletal dysplasia; Short stature; Dental crowding; Abnormal skull morphology; Abnormality of the fontanelles or cranial sutures; Macrocephaly; Periodontitis; Delayed closure of the anterior fontanelle; Nail dysplasia; Increased susceptibility to fractures; Thoracic scoliosis; Obtuse angle of mandible; Enamel hypoplasia; Short finger; Midface retrusion
|
0 |
0 |
1
|
1
|
Skeletal dysplasia; Short stature; Short phalanx of finger; Scoliosis; Macrocephaly; Delayed cranial suture closure; Nail dysplasia; Increased susceptibility to fractures
|
1
|
0 |
0 |
1
|
Waardenburg syndrome type 2A
|
0 |
0 |
1
|
1
|
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