TaoMedAI/RareMedData huggingface dataset:
Gene: MASP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Short foot (HP:0001773)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Broad foot (HP:0001769)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Ptosis (HP:0000508)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Glaucoma (HP:0000501)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: RELN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Seizure (HP:0001250)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Hypotonia (HP:0001252)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 (OMIM:616436)
Gene: RELN
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Deja vu aura (HP:0012005)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 (OMIM:616436)
Gene: RELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Middle age onset (HP:0003596)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Aphasia (HP:0002381)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Lymphedema (HP:0001004)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: 4-layered lissencephaly (HP:0006818)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: 4-layered lissencephaly (HP:0006818)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Microcephaly (HP:0000252)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Focal sensory seizure with cephalic sensation (HP:0032810)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal aware sensory seizure with auditory features (HP:0032864)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal sensory seizure with vestibular features (HP:0032759)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Sloping forehead (HP:0000340)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Small forehead (HP:0000350)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal sensory seizure with auditory features (HP:0011158)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 (OMIM:616436)
Gene: RELN
Phenotype: Focal sensory seizure with auditory features (HP:0011158)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal sensory seizure with olfactory features (HP:0011161)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Focal autonomic seizure (HP:0011154)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: RELN
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Focal automatism seizure (HP:0032898)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: RELN
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Wide nose (HP:0000445)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: LISSENCEPHALY 2 (OMIM:257320)
Gene: RELN
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: RELN
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RELN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TMPRSS15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENTEROKINASE DEFICIENCY (OMIM:226200)
Gene: TMPRSS15
Phenotype: Hypoproteinemic edema (HP:0007609)
Associated disease: ENTEROKINASE DEFICIENCY (OMIM:226200)
Gene: TMPRSS15
Phenotype: Diarrhea (HP:0002014)
Associated disease: ENTEROKINASE DEFICIENCY (OMIM:226200)
Gene: TMPRSS15
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: ENTEROKINASE DEFICIENCY (OMIM:226200)
Gene: TMPRSS15
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ENTEROKINASE DEFICIENCY (OMIM:226200)
Gene: HTRA1
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Recurrent subcortical infarcts (HP:0007236)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Stroke (HP:0001297)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Stroke (HP:0001297)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Gene: HTRA1
Phenotype: Stroke (HP:0001297)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Gene: HTRA1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Maeda syndrome; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL (ORPHA:199354)
Gene: HTRA1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)