TaoMedAI/RareMedData huggingface dataset:
Gene: NUP160
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Stage 3 chronic kidney disease (HP:0012625)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Gene: NUP160
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: AGTPBP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Seizure (HP:0001250)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Ataxia (HP:0001251)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Caesarean section (HP:0011410)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Gene: AGTPBP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: AGTPBP1
Phenotype: Esotropia (HP:0000565)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: IQCE
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Gene: IQCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Gene: IQCE
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Gene: IQCE
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Gene: IQCE
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Gene: IQCE
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Gene: FBXW11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Lens coloboma (HP:0100719)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Joint contracture of the 4th finger (HP:0009274)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Cupped ear (HP:0000378)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Webbed neck (HP:0000465)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Alternating exotropia (HP:0031717)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Sandal gap (HP:0001852)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: FBXW11
Phenotype: Myopia (HP:0000545)
Associated disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Gene: BICD2
Phenotype: Hand clenching (HP:0001188)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Distal muscle weakness (HP:0002460)
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: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Proximal muscle weakness (HP:0003701)
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: Motor delay (HP:0001270)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Motor delay (HP:0001270)
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: Motor delay (HP:0001270)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Gait disturbance (HP:0001288)
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: Bulbar palsy (HP:0001283)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Hyporeflexia (HP:0001265)
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: Lower limb muscle weakness (HP:0007340)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Waddling gait (HP:0002515)
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: Waddling gait (HP:0002515)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Gene: BICD2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Gene: BICD2
Phenotype: Flexion contracture (HP:0001371)
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: Flexion contracture (HP:0001371)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)