TaoMedAI/RareMedData huggingface dataset:
Gene: SLC34A1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Growth delay (HP:0001510)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Increased circulating osteocalcin level (HP:0031428)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Increased circulating beta-C-terminal telopeptide concentration (HP:0031425)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Abnormal urine pH (HP:0032943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC18A2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Poor head control (HP:0002421)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Poor head control (HP:0002421)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Ataxia (HP:0001251)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Ataxia (HP:0001251)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Decreased urinary dopamine level (HP:6000751)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Elevated urinary 5-hydroxyindoleacetic acid level (HP:6000756)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Dystonia (HP:0001332)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Tremor (HP:0001337)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Stooped posture (HP:0025403)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Temperature instability (HP:0005968)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Incoordination (HP:0002311)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Stridor (HP:0010307)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Fatigue (HP:0012378)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Fatigue (HP:0012378)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A2
Phenotype: Ptosis (HP:0000508)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Gene: SLC18A2
Phenotype: Ptosis (HP:0000508)
Associated disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Gene: SLC18A3
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Apnea (HP:0002104)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Meconium ileus (HP:0004401)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Cyanosis (HP:0000961)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)