TaoMedAI/RareMedData huggingface dataset:
Gene: NTN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: NTN1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: NTN1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: MIRROR MOVEMENTS 4 (OMIM:618264)
Gene: NTN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIRROR MOVEMENTS 4 (OMIM:618264)
Gene: NTN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: NTN1
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: NTN1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: CDY2A
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY2A
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY2A
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY2A
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: ECEL1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Open mouth (HP:0000194)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Limited knee flexion (HP:0006389)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Round face (HP:0000311)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Short neck (HP:0000470)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ECEL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Gene: ECEL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ECEL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MED23
Phenotype: Expressive language delay (HP:0002474)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Nonprogressive encephalopathy (HP:0007030)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Irritability (HP:0000737)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED23
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Gene: MED17
Phenotype: Hypertonia (HP:0001276)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Dysphagia (HP:0002015)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Clonus (HP:0002169)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Progressive (HP:0003676)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED17
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)