TaoMedAI/RareMedData huggingface dataset:
Gene: ALX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Broad philtrum (HP:0000289)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Alopecia (HP:0001596)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: ALX4
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: ALX4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Low-set ears (HP:0000369)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Short philtrum (HP:0000322)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Abnormal cerebral vein morphology (HP:0012480)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Strabismus (HP:0000486)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Strabismus (HP:0000486)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Strabismus (HP:0000486)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Tessier number 13 facial cleft (HP:0031585)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Telecanthus (HP:0000506)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Telecanthus (HP:0000506)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Frontonasal dysplasia with alopecia and genital abnomality; Frontonasal dysplasia type 2; Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism (ORPHA:228390)
Gene: ALX4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUF1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Lethargy (HP:0001254)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: GUF1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: GUF1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Hyaline membranes (HP:0033363)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: GUF1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: GUF1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Gene: GUF1
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: GUF1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: RINT1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Death in childhood (HP:0003819)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Cholestasis (HP:0001396)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Abnormality of the epiphysis of the femoral head (HP:0010574)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Short stature (HP:0004322)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Jaundice (HP:0000952)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: RINT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Gene: PROK2
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Gene: PROK2
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Gene: PROK2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROK2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Gene: PROK2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Gene: PROK2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROK2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROK2
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Gene: PROK2
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Gene: PROK2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROK2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROK2
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROK2
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)