TaoMedAI/RareMedData huggingface dataset:
Gene: TSEN2
Phenotype: Seizure (HP:0001250)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Spasticity (HP:0001257)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Death in childhood (HP:0003819)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Dystonia (HP:0001332)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Poor suck (HP:0002033)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Poor suck (HP:0002033)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Chorea (HP:0002072)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Apnea (HP:0002104)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Clonus (HP:0002169)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Hypoplasia of the ventral pons (HP:0006850)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Widened cerebellar subarachnoid space (HP:0012765)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Death in infancy (HP:0001522)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Visual impairment (HP:0000505)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: B9D2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
Phenotype: Seizure (HP:0001250)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
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: B9D2
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: B9D2
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: B9D2
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: B9D2
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: B9D2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Micropenis (HP:0000054)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Hypospadias (HP:0000047)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
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: B9D2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Renal cyst (HP:0000107)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
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: B9D2
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
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: B9D2
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Anencephaly (HP:0002323)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
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: B9D2
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: B9D2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Fetal onset (HP:0011461)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
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: B9D2
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: B9D2
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
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: B9D2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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: B9D2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
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)