TaoMedAI/RareMedData huggingface dataset:
Gene: KIDINS220
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Obesity (HP:0001513)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Obesity (HP:0001513)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Micrognathia (HP:0000347)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Short philtrum (HP:0000322)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Astigmatism (HP:0000483)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Esotropia (HP:0000565)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: NLGN4X
Phenotype: Sporadic (HP:0003745)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Seizure (HP:0001250)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Abnormal nonverbal communicative behavior (HP:0000758)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Inflexible adherence to routines (HP:0000732)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Autistic behavior (HP:0000729)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Lack of spontaneous play (HP:0000721)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: NLGN4X
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Gene: AARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Staring gaze (HP:0025401)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Apraxia (HP:0002186)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Middle age onset (HP:0003596)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Hand tremor (HP:0002378)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Loss of speech (HP:0002371)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Progressive leukoencephalopathy (HP:0006980)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Depression (HP:0000716)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Dementia (HP:0000726)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Psychosis (HP:0000709)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Young adult onset (HP:0011462)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Gene: AARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: AARS2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Gene: COG6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Cholestasis (HP:0001396)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Hepatitis (HP:0012115)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Esophageal varix (HP:0002040)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Carious teeth (HP:0000670)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Carious teeth (HP:0000670)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Dry skin (HP:0000958)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHAHEEN SYNDROME (OMIM:615328)
Gene: COG6
Phenotype: Peau d'orange (HP:0025533)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Decreased specific anti-polysaccharide antibody level (HP:0002848)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Growth delay (HP:0001510)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Gene: COG6
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: COG6
Phenotype: Pancytopenia (HP:0001876)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Gene: ARHGAP31
Phenotype: Split hand (HP:0001171)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)