TaoMedAI/RareMedData huggingface dataset:
Gene: CSPP1
Phenotype: Rhizomelic leg shortening (HP:0012106)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal pattern of respiration (HP:0002793)
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: Tachypnea (HP:0002789)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Renal cyst (HP:0000107)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
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: Small cervical vertebral bodies (HP:0004629)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Encephalocele (HP:0002084)
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: Encephalocele (HP:0002084)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Dyspnea (HP:0002094)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Polymicrogyria (HP:0002126)
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: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Apnea (HP:0002104)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Apnea (HP:0002104)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Apnea (HP:0002104)
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: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Short digit (HP:0011927)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormality of neuronal migration (HP:0002269)
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: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Aganglionic megacolon (HP:0002251)
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: Recurrent respiratory infections (HP:0002205)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Nystagmus (HP:0000639)
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: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Iris coloboma (HP:0000612)
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: Abnormal 5th metacarpal morphology (HP:0010013)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Oculomotor apraxia (HP:0000657)
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: Short stature (HP:0004322)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Short ribs (HP:0000773)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Short ribs (HP:0000773)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Biparietal narrowing (HP:0004422)
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: Abnormal acetabulum morphology (HP:0003170)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Long clavicles (HP:0000890)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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 tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Megalopapilla (HP:0034302)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Postaxial polydactyly (HP:0100259)
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 iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Long face (HP:0000276)
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: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Episodic tachypnea (HP:0002876)
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: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Orofacial cleft (HP:0000202)
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: Failure to thrive (HP:0001508)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Colpocephaly (HP:0030048)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Subretinal deposits (HP:0031528)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Situs inversus totalis (HP:0001696)
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: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Low-set ears (HP:0000369)
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: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Twelfth rib hypoplasia (HP:0006668)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Strabismus (HP:0000486)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Strabismus (HP:0000486)
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: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Anteverted nares (HP:0000463)
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: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Prominent nasal bridge (HP:0000426)
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: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: CSPP1
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CSPP1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CSPP1
Phenotype: Foot polydactyly (HP:0001829)
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: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 21 (OMIM:615636)
Gene: CSPP1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)