TaoMedAI/RareMedData huggingface dataset:
Gene: PPA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED (OMIM:617223)
Gene: PPA2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Myocarditis (HP:0012819)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PPA2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PPA2
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED (OMIM:617223)
Gene: PPA2
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PPA2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PPA2
Phenotype: Bradycardia (HP:0001662)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PPA2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: VPS41
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Absent speech (HP:0001344)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Myoclonus (HP:0001336)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Myopathic facies (HP:0002058)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Dyslexia (HP:0010522)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Fasciculations (HP:0002380)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Iron accumulation in substantia nigra (HP:0012678)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: VPS41
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Pes cavus (HP:0001761)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS41
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Gene: B9D1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
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: B9D1
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: B9D1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
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: B9D1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
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: B9D1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Polydactyly (HP:0010442)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
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: B9D1
Phenotype: Infantile onset (HP:0003593)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
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: B9D1
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Esodeviation (HP:0020045)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
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: B9D1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
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: B9D1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
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: B9D1
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: B9D1
Phenotype: Sonographic non-visualized fetal bladder (HP:0034217)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
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: B9D1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
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: B9D1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)