TaoMedAI/RareMedData huggingface dataset:
Gene: SMPD1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMS
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Long fingers (HP:0100807)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Dysarthria (HP:0001260)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Inability to walk (HP:0002540)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Tall stature (HP:0000098)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Hypospadias (HP:0000047)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Megalencephaly (HP:0001355)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Patchy hypo- and hyperpigmentation (HP:0007509)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Myoclonus (HP:0001336)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Narrow mouth (HP:0000160)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Cleft palate (HP:0000175)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Cleft palate (HP:0000175)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Floppy infant (HP:0008947)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Cerebral edema (HP:0002181)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Long toe (HP:0010511)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Asymmetry of the ears (HP:0010722)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Difficulty standing (HP:0003698)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: EEG abnormality (HP:0002353)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Abnormality of the Leydig cells (HP:0010789)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Narrow palm (HP:0004283)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Dental crowding (HP:0000678)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Slender toe (HP:0011308)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Long palm (HP:0011302)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Synophrys (HP:0000664)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Involuntary movements (HP:0004305)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Narrow face (HP:0000275)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Brachycephaly (HP:0000248)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: High palate (HP:0000218)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Camptodactyly (HP:0012385)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Small earlobe (HP:0000385)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Cupped ear (HP:0000378)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Thickened helices (HP:0000391)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Hoarse voice (HP:0001609)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: High myopia (HP:0011003)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: High myopia (HP:0011003)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Low-set ears (HP:0000369)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Short philtrum (HP:0000322)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Webbed neck (HP:0000465)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Webbed neck (HP:0000465)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Bulbous nose (HP:0000414)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Long hallux (HP:0001847)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Proptosis (HP:0000520)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SMS
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Gene: SMS
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Gene: SNAP25
Phenotype: Poor speech (HP:0002465)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Areflexia (HP:0001284)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Ataxia (HP:0001251)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Echolalia (HP:0010529)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Gene: SNAP25
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SNAP25
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)