TaoMedAI/RareMedData huggingface dataset:
Gene: EIF2B1
Phenotype: Lethargy (HP:0001254)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Gliosis (HP:0002171)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Decreased circulating progesterone (HP:0008233)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Memory impairment (HP:0002354)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Blindness (HP:0000618)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Fever (HP:0001945)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Personality changes (HP:0000751)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Delusion (HP:0000746)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Emotional lability (HP:0000712)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2S3
Phenotype: Tapered finger (HP:0001182)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Poor speech (HP:0002465)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Hypertonia (HP:0001276)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Seizure (HP:0001250)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Seizure (HP:0001250)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Spasticity (HP:0001257)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Inability to walk (HP:0002540)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Micropenis (HP:0000054)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Micropenis (HP:0000054)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Open mouth (HP:0000194)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Cleft palate (HP:0000175)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Cleft lip (HP:0410030)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Babinski sign (HP:0003487)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Large earlobe (HP:0009748)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Drooling (HP:0002307)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Nystagmus (HP:0000639)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Tall chin (HP:0400000)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Agitation (HP:0000713)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Full cheeks (HP:0000293)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Long face (HP:0000276)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Growth delay (HP:0001510)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Obesity (HP:0001513)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Obesity (HP:0001513)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Long philtrum (HP:0000343)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Round face (HP:0000311)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Macrotia (HP:0000400)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Strabismus (HP:0000486)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EIF2S3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Gene: EIF2S3
Phenotype: Myopia (HP:0000545)
Associated disease: MEHMO SYNDROME (OMIM:300148)
Gene: EPHA2
Phenotype: Choroideremia (HP:0001139)
Associated disease: CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Gene: EPHA2
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Gene: EPHA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Gene: EPHA2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Gene: EPHA2
Phenotype: Myopia (HP:0000545)
Associated disease: CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Gene: EIF4A2
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Microtia (HP:0008551)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Chordee (HP:0000041)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Head-banging (HP:0012168)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Constipation (HP:0002019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Gliosis (HP:0002171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Small hand (HP:0200055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Tube feeding (HP:0033454)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Diminishment of social interactions (HP:5200310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Blindness (HP:0000618)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Autism (HP:0000717)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)