TaoMedAI/RareMedData huggingface dataset:
Gene: KLF1
Phenotype: Reduced hematocrit (HP:0031851)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Anemia (HP:0001903)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: KLF1
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Short stature (HP:0004322)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Increased RBC distribution width (HP:0031965)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Fetal onset (HP:0011461)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: HbS hemoglobin (HP:0045047)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Pallor (HP:0000980)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: KLF1
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Asplenia (HP:0001746)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: KLF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: KLF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Weight loss (HP:0001824)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: KLF1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Gene: CTCF
Phenotype: Broad palm (HP:0001169)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Fetal distress (HP:0025116)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Microtia (HP:0008551)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Sepsis (HP:0100806)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypotonia (HP:0001252)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Cleft palate (HP:0000175)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Cleft palate (HP:0000175)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Short columella (HP:0002000)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Spastic gait (HP:0002064)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Broad chin (HP:0011822)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Small hand (HP:0200055)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Microdontia (HP:0000691)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Ectropion (HP:0000656)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Synophrys (HP:0000664)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Depression (HP:0000716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Short nose (HP:0003196)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Wide nasal base (HP:0012810)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Sacral dimple (HP:0000960)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Osteopenia (HP:0000938)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Osteopenia (HP:0000938)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Epicanthus (HP:0000286)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Narrow face (HP:0000275)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Kyphosis (HP:0002808)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Microcephaly (HP:0000252)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Genu valgum (HP:0002857)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hip subluxation (HP:0030043)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Small for gestational age (HP:0001518)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Incisor macrodontia (HP:0011081)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Cupped ear (HP:0000378)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Cupped ear (HP:0000378)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Long philtrum (HP:0000343)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: High forehead (HP:0000348)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Short philtrum (HP:0000322)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Triangular face (HP:0000325)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Pointed chin (HP:0000307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)