TaoMedAI/RareMedData huggingface dataset:
Gene: EDNRB
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Large for gestational age (HP:0001520)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Total intestinal aganglionosis (HP:0005241)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Ptosis (HP:0000508)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: PHC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
Gene: PHC1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
Gene: PHC1
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
Gene: PHC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PHC1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: EEF1A2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Hair-pulling (HP:0012167)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Incoordination (HP:0002311)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Ventouse delivery (HP:0011412)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Full cheeks (HP:0000293)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)