TaoMedAI/RareMedData huggingface dataset:
Gene: ELAC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ALX4
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Aplasia of the nasal bone (HP:0010941)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Nevus (HP:0003764)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Intellectual disability, mild (HP:0001256)
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: Seizure (HP:0001250)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Seizure (HP:0001250)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: ALX4
Phenotype: Small scrotum (HP:0000046)
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: Micropenis (HP:0000054)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Parietal foramina (HP:0002697)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Parietal foramina (HP:0002697)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Parietal foramina (HP:0002697)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Parietal foramina (HP:0002697)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO (OMIM:615529)
Gene: ALX4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Calvarial skull defect (HP:0001362)
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: Cryptorchidism (HP:0000028)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO (OMIM:615529)
Gene: ALX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Abnormality of the dentition (HP:0000164)
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: Cleft palate (HP:0000175)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Hypogonadism (HP:0000135)
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: Cleft lip (HP:0410030)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Multiple exostoses (HP:0002762)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Vomiting (HP:0002013)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: ALX4
Phenotype: Bifid nose (HP:0011803)
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: Occipital encephalocele (HP:0002085)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Encephalocele (HP:0002084)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Encephalocele (HP:0002084)
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: Encephalocele (HP:0002084)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Congenital onset (HP:0003577)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Congenital onset (HP:0003577)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Fine hair (HP:0002213)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Fine hair (HP:0002213)
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: Exostoses (HP:0100777)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Intellectual disability, moderate (HP:0002342)
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: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Headache (HP:0002315)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Congenital craniofacial dysostosis (HP:0008497)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Broad columella (HP:0010761)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Anemia (HP:0001903)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Conical tooth (HP:0000698)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Conical tooth (HP:0000698)
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: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Anterior plagiocephaly (HP:0011326)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Broad thumb (HP:0011304)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Venous malformation (HP:0012721)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Fetal onset (HP:0011461)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Coronal craniosynostosis (HP:0004440)
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: Cleft ala nasi (HP:0003191)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: PARIETAL FORAMINA 2 (OMIM:609597)
Gene: ALX4
Phenotype: Hypertension (HP:0000822)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: ALX4
Phenotype: Short clavicles (HP:0000894)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)
Gene: ALX4
Phenotype: Sparse hair (HP:0008070)
Associated disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Gene: ALX4
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Enlarged parietal foramina; Hereditary cranium bifidum; Foramina parietalia permagna; Fenestrae parietales symmetricae; Catlin marks; Symmetric parietal foramina (ORPHA:60015)