TaoMedAI/RareMedData huggingface dataset:
Gene: TSEN54
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Poor suck (HP:0002033)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Poor suck (HP:0002033)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Chorea (HP:0002072)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Babinski sign (HP:0003487)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Apnea (HP:0002104)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Opisthotonus (HP:0002179)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Gliosis (HP:0002171)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Gliosis (HP:0002171)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (OMIM:610204)
Gene: TSEN54
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Loss of Purkinje cells in the cerebellar vermis (HP:0007001)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Hypoplasia of the ventral pons (HP:0006850)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (OMIM:610204)
Gene: TSEN54
Phenotype: Restlessness (HP:0000711)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Widened cerebellar subarachnoid space (HP:0012765)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Congenital contracture (HP:0002803)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Congenital contracture (HP:0002803)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (OMIM:610204)
Gene: TSEN54
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Death in infancy (HP:0001522)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Central apnea (HP:0002871)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Micrognathia (HP:0000347)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Visual impairment (HP:0000505)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: KANSL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Poor speech (HP:0002465)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Spina bifida (HP:0002414)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Spina bifida (HP:0002414)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Stuttering (HP:0025268)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Stuttering (HP:0025268)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Seizure (HP:0001250)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Seizure (HP:0001250)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Seizure (HP:0001250)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Slender finger (HP:0001238)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypotrophy of the small hand muscles (HP:0006006)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Renal duplication (HP:0000075)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Renal duplication (HP:0000075)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Narrow palate (HP:0000189)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Open mouth (HP:0000194)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Open mouth (HP:0000194)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Open mouth (HP:0000194)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Contiguous gene syndrome (HP:0001466)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)