TaoMedAI/RareMedData huggingface dataset:
Gene: CCNQ
Phenotype: Lop ear (HP:0000394)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Lop ear (HP:0000394)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: High myopia (HP:0011003)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Low-set ears (HP:0000369)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Broad forehead (HP:0000337)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Narrow nose (HP:0000460)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Wide nose (HP:0000445)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Telecanthus (HP:0000506)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Telecanthus (HP:0000506)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Myopia (HP:0000545)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: MTSS2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Iris cyst (HP:0011523)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: MTSS2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Gene: CDHR1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Gene: CDHR1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CDHR1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CDHR1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDHR1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LMBRD2
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Prominent glabella (HP:0002057)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Amblyopia (HP:0000646)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Microdontia (HP:0000691)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Macrotia (HP:0000400)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Astigmatism (HP:0000483)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Wide nose (HP:0000445)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Cataract (HP:0000518)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Glaucoma (HP:0000501)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: LMBRD2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Gene: STRADA
Phenotype: Astrocytosis (HP:0002446)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Seizure (HP:0001250)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Seizure (HP:0001250)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Hypotonia (HP:0001252)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Inability to walk (HP:0002540)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)