TaoMedAI/RareMedData huggingface dataset:
Gene: PLXND1
Phenotype: Abnormal coronary artery morphology (HP:0006704)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLXND1
Phenotype: Ptosis (HP:0000508)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PHF8
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Large hands (HP:0001176)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Large hands (HP:0001176)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Cleft palate (HP:0000175)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Cleft lip (HP:0410030)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Long toe (HP:0010511)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Synophrys (HP:0000664)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Synophrys (HP:0000664)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Long face (HP:0000276)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Microcephaly (HP:0000252)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Sloping forehead (HP:0000340)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Gene: PHF8
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Pes planus (HP:0001763)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: PHF8
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Gene: KDM6B
Phenotype: Broad palm (HP:0001169)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Syndactyly (HP:0001159)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Hemangioma (HP:0001028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Speech apraxia (HP:0011098)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: KDM6B
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Gene: SMC5
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Motor delay (HP:0001270)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Seizure (HP:0001250)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Dysmetria (HP:0001310)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Dyspnea (HP:0002094)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Anemia (HP:0001903)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Diastema (HP:0000699)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Anxiety (HP:0000739)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Dacryocystocele (HP:0030752)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Supravalvar pulmonary stenosis (HP:0034349)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Sacral dimple (HP:0000960)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Epicanthus (HP:0000286)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Long face (HP:0000276)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Kyphosis (HP:0002808)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: High palate (HP:0000218)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Low-set ears (HP:0000369)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Micrognathia (HP:0000347)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Triangular face (HP:0000325)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Pes planus (HP:0001763)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Prominent nose (HP:0000448)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Protruding ear (HP:0000411)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: SMC5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ATELIS SYNDROME 2 (OMIM:620185)
Gene: ANKLE2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Open mouth (HP:0000194)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Drooling (HP:0002307)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ANKLE2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Telecanthus (HP:0000506)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Gene: ANKLE2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: FCHO1
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Death in childhood (HP:0003819)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Recurrent bronchiolitis (HP:0100501)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: FCHO1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Gene: CIC
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)