TaoMedAI/RareMedData huggingface dataset:
Gene: NEK9
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Torticollis (HP:0000473)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Short neck (HP:0000470)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Cataract (HP:0000518)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Overlapping toe (HP:0001845)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALKBH8
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Micropenis (HP:0000054)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Arachnoid granulation (HP:0034454)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Prune belly (HP:0004392)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Increased overbite (HP:0011094)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Macrotia (HP:0000400)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: ALKBH8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Gene: CHRDL1
Phenotype: Lens subluxation (HP:0001132)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Corneal arcus (HP:0001084)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Iridodonesis (HP:0100693)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Miosis (HP:0000616)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Abnormal intraocular pressure (HP:0012632)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Deep anterior chamber (HP:0007765)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Mosaic corneal dystrophy (HP:0007836)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Megalocornea (HP:0000485)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Cataract (HP:0000518)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: CHRDL1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MEGALOCORNEA (OMIM:309300)
Gene: RFT1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Spasticity (HP:0001257)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Myoclonus (HP:0001336)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Pes valgus (HP:0008081)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Gene: RFT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: RFT1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Congenital disorder of glycosylation type In; CDG1N; Congenital disorder of glycosylation type 1n; CDG-In; RFT1-CDG; Man5GlcNAc2-PP-Dol flippase deficiency; Carbohydrate deficient glycoprotein syndrome type In; CDG syndrome type In (ORPHA:244310)
Gene: TTC5
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Woolly hair (HP:0002224)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Dry skin (HP:0000958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)