TaoMedAI/RareMedData huggingface dataset:
Gene: DLL1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DLL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES (OMIM:618709)
Gene: DLL1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TRAC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Diarrhea (HP:0002014)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Infantile onset (HP:0003593)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Severely increased total eosinophil count (HP:0032061)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Vitiligo (HP:0001045)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Childhood onset (HP:0011463)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Autoimmunity (HP:0002960)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Splenomegaly (HP:0001744)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: TRAC
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Gene: CCDC22
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Syndactyly (HP:0001159)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Poor speech (HP:0002465)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Hypotonia (HP:0001252)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Hypospadias (HP:0000047)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Scoliosis (HP:0002650)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Anal atresia (HP:0002023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Protruding tongue (HP:0010808)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Broad hallux (HP:0010055)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Short stature (HP:0004322)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Short nose (HP:0003196)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Missing ribs (HP:0000921)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Kyphosis (HP:0002808)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: High palate (HP:0000218)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Death in infancy (HP:0001522)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Camptodactyly (HP:0012385)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Low-set ears (HP:0000369)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Broad forehead (HP:0000337)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Micrognathia (HP:0000347)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Short philtrum (HP:0000322)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Broad neck (HP:0000475)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Short neck (HP:0000470)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Overlapping toe (HP:0001845)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Glaucoma (HP:0000501)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Glaucoma (HP:0000501)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: CCDC22
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Gene: CCDC22
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: LAMTOR2
Phenotype: Partial albinism (HP:0007443)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)
Gene: LAMTOR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)
Gene: LAMTOR2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)
Gene: LAMTOR2
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Short stature (HP:0004322)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)