TaoMedAI/RareMedData huggingface dataset:
Gene: MECP2
Phenotype: Apnea (HP:0002104)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Apnea (HP:0002104)
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: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Apraxia (HP:0002186)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Apraxia (HP:0002186)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Gait apraxia (HP:0010521)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Progressive language deterioration (HP:0007064)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Loss of speech (HP:0002371)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Progressive (HP:0003676)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Resting tremor (HP:0002322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Motor deterioration (HP:0002333)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: EEG with focal slow activity (HP:0010843)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Small hand (HP:0200055)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Small hand (HP:0200055)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Severe infection (HP:0032169)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Mutism (HP:0002300)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Drooling (HP:0002307)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Hernia of the abdominal wall (HP:0004299)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Increased serum leptin (HP:0031793)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Short stature (HP:0004322)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Short stature (HP:0004322)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Short stature (HP:0004322)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Cachexia (HP:0004326)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Abnormal nonverbal communicative behavior (HP:0000758)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Gynecomastia (HP:0000771)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Irritability (HP:0000737)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Anxiety (HP:0000739)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Inflexible adherence to routines (HP:0000732)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Depression (HP:0000716)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Autism (HP:0000717)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Emotional lability (HP:0000712)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Restlessness (HP:0000711)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Agitation (HP:0000713)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Agitation (HP:0000713)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Lack of spontaneous play (HP:0000721)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Psychosis (HP:0000709)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Kyphosis (HP:0002808)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: High palate (HP:0000218)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: High palate (HP:0000218)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Gene: MECP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Growth delay (HP:0001510)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Gene: MECP2
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)