TaoMedAI/RareMedData huggingface dataset:
Gene: SLCO5A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPACA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: SPACA1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: SPACA1
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: SPACA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: SPACA1
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: SPACA1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: SPACA1
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Gene: VANGL1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Meningocele (HP:0002435)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Dermal sinus tract (HP:0020223)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Anterior sacral meningocele (HP:0007293)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Dermoid cyst (HP:0025247)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Meningitis (HP:0001287)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Sacral lipoma (HP:0012033)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Lipoma (HP:0012032)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Urinary retention (HP:0000016)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Constipation (HP:0002019)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Hydromyelia (HP:0100565)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Tethered cord (HP:0002144)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Back pain (HP:0003418)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Abnormal iliac wing morphology (HP:0011867)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Anencephaly (HP:0002323)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Headache (HP:0002315)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Aplasia/Hypoplasia of the sacrum (HP:0008517)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Asymmetry of spinal facet joints (HP:0008482)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Hemisacrum (HP:0009790)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Missing ribs (HP:0000921)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Myeloschisis (HP:0030708)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Hypertension (HP:0000822)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: VANGL1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: VANGL1
Phenotype: Rectal abscess (HP:0005224)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Gene: VANGL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: SBF2
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Motor delay (HP:0001270)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Inability to walk (HP:0002540)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Tremor (HP:0001337)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Paresthesia (HP:0003401)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Penetrating foot ulcers (HP:0001026)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Dysphonia (HP:0001618)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Pes planus (HP:0001763)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)