TaoMedAI/RareMedData huggingface dataset:
Gene: LEPR
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Abnormal hypothalamus morphology (HP:0012286)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Obesity (HP:0001513)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Obesity (HP:0001513)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LETM1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Split hand (HP:0001171)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Split hand (HP:0001171)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Microtia (HP:0008551)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Sporadic (HP:0003745)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Seizure (HP:0001250)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Seizure (HP:0001250)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Ataxia (HP:0001251)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Alpha-aminoadipic aciduria (HP:0410309)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hypospadias (HP:0000047)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Hypoplastic pubic ramus (HP:0008830)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Short upper lip (HP:0000188)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Streak ovary (HP:0010464)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Tethered cord (HP:0002144)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Tethered cord (HP:0002144)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Hernia (HP:0100790)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hemangioma (HP:0001028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Short thumb (HP:0009778)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Short thumb (HP:0009778)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Elevated urine acetoacetic acid level (HP:0033407)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Opto-chiasmatic atrophy (HP:0034008)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Short stature (HP:0004322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Short hallux (HP:0010109)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Short hallux (HP:0010109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Rib fusion (HP:0000902)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Dry skin (HP:0000958)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)