TaoMedAI/RareMedData huggingface dataset:
Gene: MDM4
Phenotype: Squamous cell carcinoma of the tongue (HP:0030413)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MECP2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Excessive salivation (HP:0003781)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Bruxism (HP:0003763)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Bruxism (HP:0003763)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Bruxism (HP:0003763)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Stroke (HP:0001297)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Panic attack (HP:0025269)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Seizure (HP:0001250)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Ataxia (HP:0001251)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Spasticity (HP:0001257)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Spasticity (HP:0001257)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Spasticity (HP:0001257)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Abnormal CSF pyruvate family amino acid concentration (HP:0500231)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Macroorchidism (HP:0000053)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Macroorchidism (HP:0000053)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Hypospadias (HP:0000047)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Dystonia (HP:0001332)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Dystonia (HP:0001332)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Dystonia (HP:0001332)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Absent speech (HP:0001344)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Absent speech (HP:0001344)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Tremor (HP:0001337)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Tremor (HP:0001337)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Myoclonus (HP:0001336)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: High-pitched cry (HP:0025430)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Floppy infant (HP:0008947)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Coldness (HP:0033850)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Stooped posture (HP:0025403)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Hand apraxia (HP:0032588)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Constipation (HP:0002019)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Poor suck (HP:0002033)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Dysphagia (HP:0002015)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Rigidity (HP:0002063)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Rigidity (HP:0002063)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Spastic gait (HP:0002064)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Chorea (HP:0002072)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Anorexia (HP:0002039)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Apnea (HP:0002104)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)