TaoMedAI/RareMedData huggingface dataset:
Gene: NCAPD3
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Gene: NCAPD3
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NCAPD3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: DMXL2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Motor delay (HP:0001270)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Ataxia (HP:0001251)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Ataxia (HP:0001251)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Dysarthria (HP:0001260)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Abnormal thyroid-stimulating hormone level (HP:0031097)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Dystonia (HP:0001332)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Dystonia (HP:0001332)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 71 (OMIM:617605)
Gene: DMXL2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 71 (OMIM:617605)
Gene: DMXL2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Short stature (HP:0004322)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Childhood onset (HP:0011463)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: EMG: slow motor conduction (HP:0100287)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Alopecia (HP:0001596)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Small forehead (HP:0000350)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 71 (OMIM:617605)
Gene: DMXL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Gene: DMXL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: DMXL2
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Gene: DMXL2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 71 (OMIM:617605)
Gene: DMXL2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Gene: DMXL2
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)