TaoMedAI/RareMedData huggingface dataset:
Gene: USH1C
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PQBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Seizure (HP:0001250)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Death in childhood (HP:0003819)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Macroglossia (HP:0000158)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Anal atresia (HP:0002023)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Anal atresia (HP:0002023)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Poor suck (HP:0002033)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Brittle hair (HP:0002299)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Brittle hair (HP:0002299)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Frontal balding (HP:0002292)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal (HP:0009640)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Blindness (HP:0000618)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Dry hair (HP:0011359)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Short stature (HP:0004322)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Short stature (HP:0004322)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Anxiety (HP:0000739)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Sparse hair (HP:0008070)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Narrow face (HP:0000275)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Narrow face (HP:0000275)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Narrow face (HP:0000275)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Narrow face (HP:0000275)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Long face (HP:0000276)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Malar flattening (HP:0000272)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Macrodontia (HP:0001572)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: High palate (HP:0000218)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Growth delay (HP:0001510)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Cupped ear (HP:0000378)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Cupped ear (HP:0000378)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Cupped ear (HP:0000378)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Cupped ear (HP:0000378)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Triangular face (HP:0000325)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Triangular face (HP:0000325)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Macrotia (HP:0000400)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Narrow foot (HP:0001786)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Gene: PQBP1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Protruding ear (HP:0000411)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Protruding ear (HP:0000411)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Phimosis (HP:0001741)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Gene: PQBP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Cataract (HP:0000518)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Gene: PQBP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Gene: PQBP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Coloboma (HP:0000589)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: PQBP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: RENPENNING SYNDROME 1 (OMIM:309500)
Gene: CERT1
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Curly hair (HP:0002212)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Coarse hair (HP:0002208)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: CERT1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Gene: ARPC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Paralytic ileus (HP:0002590)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Spasticity (HP:0001257)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Hematochezia (HP:0002573)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Scoliosis (HP:0002650)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Celiac disease (HP:0002608)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Hepatitis (HP:0012115)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Pulmonary pneumatocele (HP:0025419)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Hemoptysis (HP:0002105)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Poor wound healing (HP:0001058)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Myositis (HP:0100614)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Gene: ARPC5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)