TaoMedAI/RareMedData huggingface dataset:
Gene: RPGRIP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Adult onset (HP:0003581)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Mildly reduced visual acuity (HP:0032037)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Foveal atrophy (HP:0025010)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Visual acuity no light perception (HP:0030553)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Asteroid hyalosis (HP:0030672)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Retinal arteriolar constriction (HP:0008043)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Flat cornea (HP:0007720)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Strabismus (HP:0000486)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Cataract (HP:0000518)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Exotropia (HP:0000577)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Myopia (HP:0000545)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Myopia (HP:0000545)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: FERRY3
Phenotype: Excessive shyness (HP:0100962)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: FERRY3
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Gene: PNPLA2
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Motor delay (HP:0001270)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Areflexia (HP:0001284)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)