TaoMedAI/RareMedData huggingface dataset:
Gene: DSTYK
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: RAB3GAP2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Enlarged sylvian cistern (HP:0100952)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Prominent antitragus (HP:0008593)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Seizure (HP:0001250)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Spasticity (HP:0001257)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Small scrotum (HP:0000046)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Micropenis (HP:0000054)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Micropenis (HP:0000054)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Slender ulna (HP:0003992)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Absent speech (HP:0001344)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Talipes valgus (HP:0004684)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Clinodactyly of the 4th toe (HP:0011918)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Clonus (HP:0002169)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Asymmetry of the ears (HP:0010722)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Osteopathia striata (HP:0010740)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Short palm (HP:0004279)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Tooth malposition (HP:0000692)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Broad fingertip (HP:0011300)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Short stature (HP:0004322)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Short stature (HP:0004322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Short stature (HP:0004322)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Prominent nipples (HP:0004405)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Short nose (HP:0003196)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Short nose (HP:0003196)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: High palate (HP:0000218)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: High palate (HP:0000218)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: High palate (HP:0000218)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Macrotia (HP:0000400)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Macrotia (HP:0000400)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Strabismus (HP:0000486)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Microcornea (HP:0000482)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Microcornea (HP:0000482)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Pes planus (HP:0001763)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Cataract (HP:0000518)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Gene: RAB3GAP2
Phenotype: Cataract (HP:0000518)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Cataract (HP:0000518)
Associated disease: SPG69; Autosomal recessive spastic paraplegia type 69 (ORPHA:401830)
Gene: RAB3GAP2
Phenotype: Cataract (HP:0000518)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Short toe (HP:0001831)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)