TaoMedAI/RareMedData huggingface dataset:
Gene: EMC10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: ACTL9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 53 (OMIM:619258)
Gene: ACTL9
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 53 (OMIM:619258)
Gene: ACTL9
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 53 (OMIM:619258)
Gene: WDR62
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Hypertonia (HP:0001276)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Dysarthria (HP:0001260)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Lissencephaly (HP:0001339)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Pachygyria (HP:0001302)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Impulsivity (HP:0100710)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Schizencephaly (HP:0010636)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Childhood onset (HP:0011463)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: WDR62
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Premature birth (HP:0001622)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Genu varum (HP:0002970)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Gene: WDR62
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SLC25A42
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Motor delay (HP:0001270)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Seizure (HP:0001250)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Ataxia (HP:0001251)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Dysarthria (HP:0001260)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Dystonia (HP:0001332)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Scoliosis (HP:0002650)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Easy fatigability (HP:0003388)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Infantile onset (HP:0003593)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Frequent falls (HP:0002359)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Developmental regression (HP:0002376)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: SLC25A42
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Gene: RSPO1
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Hypospadias (HP:0000047)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Sclerodactyly (HP:0011838)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Carcinoma (HP:0030731)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Ovotestis (HP:0012861)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome; Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome (ORPHA:85112)
Gene: RSPO1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Sex reversal (HP:0012245)
Associated disease: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome; Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome (ORPHA:85112)
Gene: RSPO1
Phenotype: Small nail (HP:0001792)
Associated disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Gene: RSPO1
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome; Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome (ORPHA:85112)
Gene: EPHA10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 88 (OMIM:620283)
Gene: EPHA10
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 88 (OMIM:620283)
Gene: EPHA10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 88 (OMIM:620283)
Gene: CCDC141
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CCDC141
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CCDC141
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CCDC141
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CCDC141
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CCDC141
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)