TaoMedAI/RareMedData huggingface dataset:
Gene: COPB2
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Premature birth (HP:0001622)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ADGRG1
Phenotype: Language impairment (HP:0002463)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Language impairment (HP:0002463)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Language impairment (HP:0002463)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Hypertonia (HP:0001276)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Motor delay (HP:0001270)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Motor delay (HP:0001270)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Seizure (HP:0001250)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Seizure (HP:0001250)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Spasticity (HP:0001257)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: EEG with frontal focal spikes (HP:0012015)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: EEG with parietal focal spikes (HP:0012017)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: EEG with central focal spikes (HP:0012014)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Bilateral perisylvian polymicrogyria (HP:0032407)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Dysmetria (HP:0001310)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Babinski sign (HP:0003487)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Apnea (HP:0002104)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Paraparesis (HP:0002385)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Drooling (HP:0002307)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Perisylvian predominant thick cortex pachygyria (HP:0020190)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Frontal polymicrogyria (HP:0006821)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Aspiration (HP:0002835)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Strabismus (HP:0000486)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: ADGRG1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: ADGRG1
Phenotype: Exotropia (HP:0000577)
Associated disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Gene: ADGRG1
Phenotype: Exotropia (HP:0000577)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Esotropia (HP:0000565)
Associated disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Gene: ADGRG1
Phenotype: Esotropia (HP:0000565)
Associated disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Gene: S1PR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 68 (OMIM:610419)
Gene: S1PR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 68 (OMIM:610419)
Gene: S1PR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 68 (OMIM:610419)
Gene: MMP20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
Gene: MMP20
Phenotype: Hypomature enamel (HP:0033786)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
Gene: MMP20
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
Gene: MMP20
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
Gene: MMP20
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
Gene: TRIP13
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Seizure (HP:0001250)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Seizure (HP:0001250)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)