TaoMedAI/RareMedData huggingface dataset:
Gene: EHMT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Pes planus (HP:0001763)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Flat occiput (HP:0005469)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: EHMT1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: TLE6
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TLE6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREIMPLANTATION EMBRYONIC LETHALITY 1 (OMIM:616814)
Gene: TLE6
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TLE6
Phenotype: Female infertility (HP:0008222)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TLE6
Phenotype: Female infertility (HP:0008222)
Associated disease: PREIMPLANTATION EMBRYONIC LETHALITY 1 (OMIM:616814)
Gene: TLE6
Phenotype: Abnormal oocyte morphology (HP:0020155)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TLE6
Phenotype: Abnormal meiosis (HP:0031515)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TLE6
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: CAMKMT
Phenotype: Seizure (HP:0001250)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Cystinuria (HP:0003131)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Growth delay (HP:0001510)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CAMKMT
Phenotype: Long eyelashes (HP:0000527)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: CLMP
Phenotype: Projectile vomiting (HP:0002587)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Abnormal peristalsis (HP:0030914)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Dehydration (HP:0001944)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Intolerance to protein (HP:0001984)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Congenital shortened small intestine (HP:0030889)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Decreased intestinal transit time (HP:0030897)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Abdominal distention (HP:0003270)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Sparse hair (HP:0008070)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: CLMP
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: CLMP
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Gene: NHEJ1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Anemia (HP:0001903)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Growth delay (HP:0001510)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: NHEJ1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Cernunnos XLFD; NHEJ1 deficiency; Cernunnos-XLF deficiency; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome (ORPHA:169079)
Gene: CFAP69
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Gene: CFAP69
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Gene: CFAP69
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Gene: CFAP69
Phenotype: Microcephalic sperm head (HP:0032561)
Associated disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Gene: CFAP69
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Gene: CFAP69
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Gene: CSPP1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Open operculum (HP:0100954)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Meningocele (HP:0002435)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Single naris (HP:0009932)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Seizure (HP:0001250)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Early ossification of capital femoral epiphyses (HP:0008797)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Absent speech (HP:0001344)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CSPP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)