TaoMedAI/RareMedData huggingface dataset:
Gene: NECTIN4
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Alopecia (HP:0001596)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Small nail (HP:0001792)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: FIP1L1
Phenotype: Chronic infection (HP:0031035)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Bone pain (HP:0002653)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Productive cough (HP:0031245)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Anorexia (HP:0002039)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Gangrene (HP:0100758)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Vertigo (HP:0002321)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Metrorrhagia (HP:0100608)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Fever (HP:0001945)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Anemia (HP:0001903)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Hematuria (HP:0000790)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Stomatitis (HP:0010280)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Purpura (HP:0000979)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Petechiae (HP:0000967)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: FIP1L1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NIPA2
Phenotype: Motor delay (HP:0001270)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Seizure (HP:0001250)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Ataxia (HP:0001251)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Postural instability (HP:0002172)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Dyslexia (HP:0010522)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Poor coordination (HP:0002370)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Memory impairment (HP:0002354)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Short attention span (HP:0000736)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Autism (HP:0000717)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Broad forehead (HP:0000337)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TMEM163
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Growth delay (HP:0001510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: TMEM163
Phenotype: Blue sclerae (HP:0000592)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Gene: CDT1
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Anotia (HP:0009892)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Microtia (HP:0008551)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Epispadias (HP:0000039)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)