TaoMedAI/RareMedData huggingface dataset:
Gene: SEC24D
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: SEC24D
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: SEC24D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEC24D
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEC24D
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: SEC24D
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Triangular face (HP:0000325)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Microretrognathia (HP:0000308)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEC24D
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: SEC24D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Proptosis (HP:0000520)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: SEC24D
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEC24D
Phenotype: Proptosis (HP:0000520)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: SEC24D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Gene: SEC24D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC24D
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SEC24D
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SEC24D
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC24D
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TRANK1
Phenotype: Confusion (HP:0001289)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Hot flashes (HP:0031217)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Parageusia (HP:0031249)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Nausea (HP:0002018)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Decreased libido (HP:0046504)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Poor hand-eye coordination (HP:0007057)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Headache (HP:0002315)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Episodic hypersomnia (HP:0007200)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Mutism (HP:0002300)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Amplification of sexual behavior (HP:5200321)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Photophobia (HP:0000613)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Fever (HP:0001945)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Polydipsia (HP:0001959)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Parosmia (HP:0034004)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Poor appetite (HP:0004396)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Derealization (HP:5200218)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Irritability (HP:0000737)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Anxiety (HP:0000739)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Delusion (HP:0000746)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Apathy (HP:0000741)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Depression (HP:0000716)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Agitation (HP:0000713)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: TRANK1
Phenotype: Sweet craving (HP:0030221)
Associated disease: Kleine-Levin syndrome (ORPHA:33543)
Gene: OSBPL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
Gene: OSBPL2
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
Gene: OSBPL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
Gene: TELO2
Phenotype: Tapered finger (HP:0001182)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Poor speech (HP:0002465)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Hypertonia (HP:0001276)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Seizure (HP:0001250)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Seizure (HP:0001250)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Ataxia (HP:0001251)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Ataxia (HP:0001251)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Spasticity (HP:0001257)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Spasticity (HP:0001257)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Inability to walk (HP:0002540)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Absent speech (HP:0001344)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Absent speech (HP:0001344)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Floppy infant (HP:0008947)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Abnormal morphology of the great vessels (HP:0030962)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Esodeviation (HP:0020045)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Small hand (HP:0200055)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Vascular ring (HP:0010775)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Short stature (HP:0004322)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Double aortic arch (HP:0011590)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Hip contracture (HP:0003273)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Gene: TELO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Annular pancreas (HP:0001734)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Short foot (HP:0001773)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TELO2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: You-Hoover-Fong syndrome; TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
Gene: TECPR2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Areflexia (HP:0001284)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Areflexia (HP:0001284)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)