TaoMedAI/RareMedData huggingface dataset:
Gene: NUP62
Phenotype: Spasticity (HP:0001257)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Spasticity (HP:0001257)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Atrophy/Degeneration involving the caudate nucleus (HP:0007374)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Dystonia (HP:0001332)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Dystonia (HP:0001332)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Myoclonus (HP:0001336)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Floppy infant (HP:0008947)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Dysphagia (HP:0002015)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Dysphagia (HP:0002015)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Rigidity (HP:0002063)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Babinski sign (HP:0003487)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Infantile onset (HP:0003593)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Frequent falls (HP:0002359)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Developmental regression (HP:0002376)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Optic atrophy (HP:0000648)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Childhood onset (HP:0011463)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Failure to thrive (HP:0001508)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: DNAAF11
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Absent inner and outer dynein arms (HP:0012259)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Rhinitis (HP:0012384)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Gene: DNAAF11
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: PLD3
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: PLD3
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Gene: SMPX
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: DEAFNESS, X-LINKED 4 (OMIM:300066)
Gene: SMPX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Middle age onset (HP:0003596)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, X-LINKED 4 (OMIM:300066)
Gene: SMPX
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: DEAFNESS, X-LINKED 4 (OMIM:300066)
Gene: SMPX
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, X-LINKED 4 (OMIM:300066)
Gene: SMPX
Phenotype: Cataract (HP:0000518)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SMPX
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Gene: SHPK
Phenotype: Increased urinary sedoheptulose (HP:0025157)
Associated disease: SEDOHEPTULOKINASE DEFICIENCY (OMIM:617213)
Gene: SHPK
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Abnormality of globe location (HP:0100886)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Cholestasis (HP:0001396)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEDOHEPTULOKINASE DEFICIENCY (OMIM:617213)
Gene: SHPK
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Hepatitis (HP:0012115)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Anemia (HP:0001903)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Diastasis recti (HP:0001540)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)