TaoMedAI/RareMedData huggingface dataset:
Gene: MYL11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Retrognathia (HP:0000278)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Pursed lips (HP:0000205)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Short neck (HP:0000470)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYL11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Gene: MYL11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYL11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPSM2
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Motor delay (HP:0001270)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Seizure (HP:0001250)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Large foramen magnum (HP:0002700)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: GPSM2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Gene: UBIAD1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: SCHNYDER CORNEAL DYSTROPHY (OMIM:121800)
Gene: UBIAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHNYDER CORNEAL DYSTROPHY (OMIM:121800)
Gene: UBIAD1
Phenotype: Crystalline corneal dystrophy (HP:0007760)
Associated disease: SCHNYDER CORNEAL DYSTROPHY (OMIM:121800)
Gene: PYCR2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Poor speech (HP:0002465)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Seizure (HP:0001250)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Ataxia (HP:0001251)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Spasticity (HP:0001257)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Inability to walk (HP:0002540)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Inability to walk (HP:0002540)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Absent speech (HP:0001344)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Vomiting (HP:0002013)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hypoplasia of the antihelix (HP:0009739)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Developmental regression (HP:0002376)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Nystagmus (HP:0000639)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Broad hallux (HP:0010055)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Irritability (HP:0000737)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Short nose (HP:0003196)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Increased laxity of ankles (HP:0006460)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: High palate (HP:0000218)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Triangular face (HP:0000325)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Triangular face (HP:0000325)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Macrotia (HP:0000400)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Protruding ear (HP:0000411)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PYCR2
Phenotype: Exotropia (HP:0000577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: PYCR2
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Gene: PYCR2
Phenotype: Esotropia (HP:0000565)
Associated disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Gene: GMPPB
Phenotype: Poor speech (HP:0002465)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)