TaoMedAI/RareMedData huggingface dataset:
Gene: TP63
Phenotype: Oval face (HP:0000300)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Blepharitis (HP:0000498)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Blepharitis (HP:0000498)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Blepharitis (HP:0000498)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Blepharitis (HP:0000498)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Disturbance of facial expression (HP:0005324)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Abnormal nasopharynx morphology (HP:0001739)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Keratitis (HP:0000491)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Small nail (HP:0001792)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Narrow nose (HP:0000460)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Anonychia (HP:0001798)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Choanal atresia (HP:0000453)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Choanal atresia (HP:0000453)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Abnormal nasal septum morphology (HP:0000419)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Protruding ear (HP:0000411)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Alacrima (HP:0000522)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Hallux valgus (HP:0001822)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Split foot (HP:0001839)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Ptosis (HP:0000508)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Nail pits (HP:0001803)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Nail pits (HP:0001803)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Nail pits (HP:0001803)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Nail pits (HP:0001803)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: JRK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Dyslexia (HP:0010522)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Jerky head movements (HP:0006961)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Anxiety (HP:0000739)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Depression (HP:0000716)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Pallor (HP:0000980)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Uncontrolled eye movements (HP:0007738)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Punding (HP:0030218)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: JRK
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: JRK
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: DNAH17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: DNAH17
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Gene: RNASET2
Phenotype: Poor speech (HP:0002465)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Athetosis (HP:0002305)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Doll-like facies (HP:0000295)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: RNASET2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Gene: DCHS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Microtia (HP:0008551)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Microtia (HP:0008551)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Typified by age-related disease onset (HP:0003831)
Associated disease: MITRAL VALVE PROLAPSE 2 (OMIM:607829)
Gene: DCHS1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DCHS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MITRAL VALVE PROLAPSE 2 (OMIM:607829)
Gene: DCHS1
Phenotype: Pachygyria (HP:0001302)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Abnormal tracheal morphology (HP:0002778)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Anal atresia (HP:0002023)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)