TaoMedAI/RareMedData huggingface dataset:
Gene: EHMT1
Phenotype: Absent speech (HP:0001344)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: EHMT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Macroglossia (HP:0000158)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Renal cyst (HP:0000107)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Abnormality of the musculoskeletal system (HP:0033127)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Gliosis (HP:0002171)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Echolalia (HP:0010529)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Aphasia (HP:0002381)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Developmental regression (HP:0002376)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Abnormal shape of the palpebral fissure (HP:0200005)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Tube feeding (HP:0033454)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Mutism (HP:0002300)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: EHMT1
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Moderate receptive language delay (HP:0011351)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Natal tooth (HP:0000695)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Natal tooth (HP:0000695)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Synophrys (HP:0000664)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Synophrys (HP:0000664)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Short stature (HP:0004322)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Short stature (HP:0004322)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Irritability (HP:0000737)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Anxiety (HP:0000739)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Anxiety (HP:0000739)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Apathy (HP:0000741)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Apathy (HP:0000741)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Depression (HP:0000716)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Depression (HP:0000716)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Autism (HP:0000717)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Autism (HP:0000717)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Psychosis (HP:0000709)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Short nose (HP:0003196)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Cerebral cortical hemiatrophy (HP:0100308)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: EHMT1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Coronary artery fistula (HP:0011641)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Overgrowth (HP:0001548)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Overweight (HP:0025502)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Growth delay (HP:0001510)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Obesity (HP:0001513)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Obesity (HP:0001513)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Flat face (HP:0012368)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: EHMT1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: EHMT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Conotruncal defect (HP:0001710)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Conotruncal defect (HP:0001710)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Strabismus (HP:0000486)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)