TaoMedAI/RareMedData huggingface dataset:
Gene: TNFSF11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Narrow chest (HP:0000774)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Chronic rhinitis due to narrow nasal airway (HP:0004499)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Pallor (HP:0000980)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Genu valgum (HP:0002857)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Growth delay (HP:0001510)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Otitis media (HP:0000388)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Decreased osteoclast count (HP:0030328)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Pancytopenia (HP:0001876)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: SLC25A12
Phenotype: Tapered finger (HP:0001182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Narrow palate (HP:0000189)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: High, narrow palate (HP:0002705)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Apnea (HP:0002104)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Febrile status epilepticus (HP:0032656)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Oval face (HP:0000300)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Persistent head lag (HP:0032988)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Flat occiput (HP:0005469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: SLC25A12
Phenotype: Darwin tubercle of helix (HP:0011261)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Gene: CDK13
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Constipation (HP:0002019)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Pica (HP:0011856)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Curly hair (HP:0002212)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Microdontia (HP:0000691)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Autism (HP:0000717)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Overfolded helix (HP:0000396)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)