TaoMedAI/RareMedData huggingface dataset:
Gene: KANSL1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Broad chin (HP:0011822)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Broad chin (HP:0011822)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Broad chin (HP:0011822)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Fair hair (HP:0002286)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Fair hair (HP:0002286)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Fair hair (HP:0002286)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Numerous nevi (HP:0001054)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Numerous nevi (HP:0001054)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hemangioma (HP:0001028)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Vitiligo (HP:0001045)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Vitiligo (HP:0001045)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Narrow palm (HP:0004283)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Anomaly of lower limb diaphyses (HP:0012699)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Anomaly of lower limb diaphyses (HP:0012699)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pineal cyst (HP:0012683)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pineal cyst (HP:0012683)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Short stature (HP:0004322)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Conspicuously happy disposition (HP:0100024)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Overfriendliness (HP:0100025)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Anxiety (HP:0000739)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Anxiety (HP:0000739)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Anxiety (HP:0000739)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Anteverted ears (HP:0040080)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Dry skin (HP:0000958)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Alopecia (HP:0001596)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Alopecia (HP:0001596)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Long face (HP:0000276)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Long face (HP:0000276)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Long face (HP:0000276)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: High palate (HP:0000218)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Melanoma (HP:0002861)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Melanoma (HP:0002861)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Slender build (HP:0001533)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Slender build (HP:0001533)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Broad forehead (HP:0000337)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: High forehead (HP:0000348)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)