TaoMedAI/RareMedData huggingface dataset:
Gene: ARHGEF2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: BUB3
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Seizure (HP:0001250)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Neoplasm (HP:0002664)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Osteolysis (HP:0002797)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Apnea (HP:0002104)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Short stature (HP:0004322)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Colon cancer (HP:0003003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Ascites (HP:0001541)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Growth delay (HP:0001510)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: High forehead (HP:0000348)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Triangular face (HP:0000325)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Wide nose (HP:0000445)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Cataract (HP:0000518)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: SLC24A1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Gene: SLC24A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Gene: SLC24A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Gene: SLC24A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Gene: SLC24A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Gene: SLC24A1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Gene: SLC24A1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC24A1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A1
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SLC33A1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Seizure (HP:0001250)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Inability to walk (HP:0002540)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Clonus (HP:0002169)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Progressive (HP:0003676)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Abnormal lower-limb motor evoked potentials (HP:0012898)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: SLC33A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG42; Autosomal dominant spastic paraplegia type 42 (ORPHA:171863)
Gene: SLC33A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Gene: SLC33A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Gene: HACD1
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Areflexia (HP:0001284)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)