TaoMedAI/RareMedData huggingface dataset:
Gene: HES7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Ectopic anus (HP:0004397)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Missing ribs (HP:0000921)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Rib fusion (HP:0000902)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Short thorax (HP:0010306)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Chiari type II malformation (HP:0025660)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Dextrocardia (HP:0001651)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Unilateral vertebral artery hypoplasia (HP:0030323)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Vertebral artery hypoplasia (HP:0030322)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Broad neck (HP:0000475)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYCC1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Gene: HYCC1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Gene: HYCC1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Gene: HYCC1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Gene: HYCC1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Gene: HYCC1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Delayed somatosensory central conduction time (HP:0100291)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Truncal titubation (HP:0030147)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Gene: HYCC1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Gene: SLC9A7
Phenotype: High anterior hairline (HP:0009890)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Midface retrusion (HP:0011800)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Myopathic facies (HP:0002058)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Babinski sign (HP:0003487)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Broad-based gait (HP:0002136)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Drooling (HP:0002307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Overweight (HP:0025502)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SLC9A7
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Gene: SPATA22
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Cryptorchidism (HP:0000028)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Female infertility (HP:0008222)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Irregular menstruation (HP:0000858)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Male infertility (HP:0003251)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease:  (OMIM:621001)
Gene: SPATA22
Phenotype: Autoimmunity (HP:0002960)
Associated disease:  (OMIM:621002)
Gene: SPATA22
Phenotype: Abnormal circulating gonadotropin concentration (HP:0030338)
Associated disease:  (OMIM:621001)
Gene: MCEE
Phenotype: Motor delay (HP:0001270)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Spasticity (HP:0001257)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Dehydration (HP:0001944)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Gene: MCEE
Phenotype: Ketonuria (HP:0002919)
Associated disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)