TaoMedAI/RareMedData huggingface dataset:
Gene: ZBTB16
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
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: ZBTB16
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
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: ZBTB16
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: ZBTB16
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
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: ZBTB16
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: ZBTB16
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
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: ZBTB16
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
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: ZBTB16
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
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: ZBTB16
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
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: ZBTB16
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
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: ZBTB16
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: ZBTB16
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: ZNF148
Phenotype: Poor speech (HP:0002465)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Wide mouth (HP:0000154)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Renal cyst (HP:0000107)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Deep philtrum (HP:0002002)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Low hanging columella (HP:0009765)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Short stature (HP:0004322)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Epicanthus (HP:0000286)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Colpocephaly (HP:0030048)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Low-set ears (HP:0000369)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Triangular face (HP:0000325)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Pointed chin (HP:0000307)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Pes planus (HP:0001763)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Telecanthus (HP:0000506)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: ZNF148
Phenotype: Hypermetropia (HP:0000540)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Gene: VEZF1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Gene: VEZF1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VEZF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RNF113A
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Micropenis (HP:0000054)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Wide mouth (HP:0000154)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)