TaoMedAI/RareMedData huggingface dataset:
Gene: ATF6
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ATF6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ATF6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATF6
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: ATF6
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: ATF6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ATF6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: ATF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ATF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATF6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATF6
Phenotype: Myopia (HP:0000545)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: RAB3GAP1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Enlarged sylvian cistern (HP:0100952)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Seizure (HP:0001250)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Short stature (HP:0004322)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Short stature (HP:0004322)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Short stature (HP:0004322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Short stature (HP:0004322)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Short nose (HP:0003196)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: High palate (HP:0000218)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: High palate (HP:0000218)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Macrotia (HP:0000400)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Macrotia (HP:0000400)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Macrotia (HP:0000400)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Microcornea (HP:0000482)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Microcornea (HP:0000482)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Cataract (HP:0000518)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP1
Phenotype: Cataract (HP:0000518)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Gene: RAB3GAP1
Phenotype: Ptosis (HP:0000508)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Gene: RAB3GAP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Primitive reflex (HP:0002476)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Seizure (HP:0001250)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Spasticity (HP:0001257)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Inability to walk (HP:0002540)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Small scrotum (HP:0000046)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Micropenis (HP:0000054)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Absent speech (HP:0001344)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Pachygyria (HP:0001302)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Scoliosis (HP:0002650)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Narrow palate (HP:0000189)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)