TaoMedAI/RareMedData huggingface dataset:
Gene: RPGRIP1L
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Genu valgum (HP:0002857)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Central apnea (HP:0002871)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MECKEL SYNDROME, TYPE 5 (OMIM:611561)
Gene: RPGRIP1L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1L
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: MECKEL SYNDROME, TYPE 5 (OMIM:611561)
Gene: RPGRIP1L
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Low-set ears (HP:0000369)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Renal interstitial inflammation (HP:0032945)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Renal interstitial fibrosis (HP:0032948)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Strabismus (HP:0000486)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Strabismus (HP:0000486)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Strabismus (HP:0000486)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1L
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Ptosis (HP:0000508)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Ptosis (HP:0000508)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Visual impairment (HP:0000505)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME, TYPE 5 (OMIM:611561)
Gene: RPGRIP1L
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1L
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MECKEL SYNDROME, TYPE 5 (OMIM:611561)
Gene: RPGRIP1L
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: RPGRIP1L
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1L
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WASHC4
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Dorsal hirsutism (HP:0034042)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: WASHC4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Gene: NEDD4L
Phenotype: Seizure (HP:0001250)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Hypotonia (HP:0001252)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Ataxia (HP:0001251)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Absent speech (HP:0001344)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Narrow mouth (HP:0000160)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Cleft palate (HP:0000175)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Infantile onset (HP:0003593)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Congenital onset (HP:0003577)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: 1-4 toe syndactyly (HP:0010712)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Exodeviation (HP:0020049)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Dental crowding (HP:0000678)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Short nose (HP:0003196)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Elbow contracture (HP:0034391)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Long face (HP:0000276)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Micrognathia (HP:0000347)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Round face (HP:0000311)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Microretrognathia (HP:0000308)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Persistent head lag (HP:0032988)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)