TaoMedAI/RareMedData huggingface dataset:
Gene: P4HB
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Micrognathia (HP:0000347)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Orbital craniosynostosis (HP:0005472)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Proptosis (HP:0000520)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Proptosis (HP:0000520)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PAFAH1B1
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Language impairment (HP:0002463)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Poor head control (HP:0002421)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Sporadic (HP:0003745)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Seizure (HP:0001250)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Dysgyria (HP:0032398)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Tall stature (HP:0000098)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Pachygyria (HP:0001302)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Abnormal upper lip morphology (HP:0000177)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Developmental regression (HP:0002376)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Anterior predominant thick cortex pachygyria (HP:0020191)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Posterior predominant thick cortex pachygyria (HP:0020189)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Agyria (HP:0031882)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: Agyria (HP:0031882)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Short nose (HP:0003196)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: High palate (HP:0000218)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Growth delay (HP:0001510)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Low-set ears (HP:0000369)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: High forehead (HP:0000348)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: PAFAH1B1
Phenotype: Short neck (HP:0000470)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Wide nose (HP:0000445)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: PAFAH1B1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PAFAH1B1
Phenotype: EEG with changes in voltage (HP:0011201)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: PAFAH1B1-related lissencephaly; Lissencephaly due to LIS1 mutation (ORPHA:95232)
Gene: PAFAH1B1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: LISSENCEPHALY 1 (OMIM:607432)
Gene: PRDX1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Confusion (HP:0001289)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Seizure (HP:0001250)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Tremor (HP:0001337)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hypotension (HP:0002615)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Nephropathy (HP:0000112)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)