TaoMedAI/RareMedData huggingface dataset:
Gene: MID2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
Gene: MID2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
Gene: MID2
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
Gene: MID2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
Gene: ZPBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 66 (OMIM:619799)
Gene: ZPBP
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 66 (OMIM:619799)
Gene: ZPBP
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 66 (OMIM:619799)
Gene: ZPBP
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 66 (OMIM:619799)
Gene: HSF2BP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 19 (OMIM:619245)
Gene: HSF2BP
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 19 (OMIM:619245)
Gene: HSF2BP
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 19 (OMIM:619245)
Gene: HSF2BP
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PREMATURE OVARIAN FAILURE 19 (OMIM:619245)
Gene: HSF2BP
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 19 (OMIM:619245)
Gene: TRIOBP
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 28 (OMIM:609823)
Gene: TRIOBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 28 (OMIM:609823)
Gene: TRIOBP
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 28 (OMIM:609823)
Gene: DNAJB4
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Dyspnea (HP:0002094)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Middle age onset (HP:0003596)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Lipoid pneumonia (HP:0033364)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: DNAJB4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Gene: KERA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Corneal arcus (HP:0001084)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Sclerocornea (HP:0000647)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Childhood onset (HP:0011463)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Flat cornea (HP:0007720)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: KERA
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Gene: ADAMTS13
Phenotype: Stroke (HP:0001297)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Confusion (HP:0001289)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Proteinuria (HP:0000093)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Tremor (HP:0001337)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Respiratory distress (HP:0002098)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Schistocytosis (HP:0001981)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Fever (HP:0001945)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Jaundice (HP:0000952)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: ADAMTS13
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Gene: PRDM5
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Keratoglobus (HP:0001119)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Keratoglobus (HP:0001119)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Abnormality of hair pigmentation (HP:0009887)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Myalgia (HP:0003326)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Myalgia (HP:0003326)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Corneal perforation (HP:0100583)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Hernia (HP:0100790)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Sclerocornea (HP:0000647)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Soft skin (HP:0000977)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Flat cornea (HP:0007720)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: High myopia (HP:0011003)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Megalocornea (HP:0000485)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Pes planus (HP:0001763)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Glaucoma (HP:0000501)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Keratoconus (HP:0000563)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: PRDM5
Phenotype: Corneal scarring (HP:0000559)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Visual loss (HP:0000572)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: PRDM5
Phenotype: Myopia (HP:0000545)
Associated disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Gene: CIT
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Hypertonia (HP:0001276)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Renal agenesis (HP:0000104)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CIT
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Gene: CIT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: EMILIN1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EMILIN1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EMILIN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EMILIN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EMILIN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EMILIN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EMILIN1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EMILIN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EMILIN1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EMILIN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)