TaoMedAI/RareMedData huggingface dataset:
Gene: TRIM32
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Myopathy (HP:0003198)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Retinopathy (HP:0000488)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NT5C2
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: NT5C2
Phenotype: Myopia (HP:0000545)
Associated disease: Autosomal recessive spastic paraplegia type 65; SPG45; SPG65; Autosomal recessive spastic paraplegia type 45 (ORPHA:320396)
Gene: NT5C2
Phenotype: Myopia (HP:0000545)
Associated disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Gene: MAST1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Seizure (HP:0001250)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Inability to walk (HP:0002540)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Absent speech (HP:0001344)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: MAST1
Phenotype: Short stature (HP:0004322)
Associated disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Gene: CEP152
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Hypospadias (HP:0000047)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)