TaoMedAI/RareMedData huggingface dataset:
Gene: BICD2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Gowers sign (HP:0003391)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Gowers sign (HP:0003391)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Steppage gait (HP:0003376)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Scapular winging (HP:0003691)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Femur fracture (HP:0031846)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Difficulty running (HP:0009046)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Third trimester onset (HP:0034197)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Second trimester onset (HP:0034198)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Congenital foot contraction deformities (HP:0005853)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Hip contracture (HP:0003273)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Central apnea (HP:0002871)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Gene: BICD2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Pes planus (HP:0001763)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: ICOSLG
Phenotype: Genital warts (HP:0032301)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Myelokathexis (HP:0031160)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Recurrent oral herpes (HP:0410028)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: ICOSLG
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Gene: SIN3B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Seizure (HP:0001250)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Fine hair (HP:0002213)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Mild malformation of cortical development (HP:0032059)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Short attention span (HP:0000736)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3B
Phenotype: Fragile nails (HP:0001808)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: NCAPD3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)