TaoMedAI/RareMedData huggingface dataset:
Gene: PHF21A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Short philtrum (HP:0000322)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Strabismus (HP:0000486)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: RSRC1
Phenotype: Severe temper tantrums (HP:0025162)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Drooling (HP:0002307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: RSRC1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Gene: WAC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Motor delay (HP:0001270)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Motor delay (HP:0001270)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Seizure (HP:0001250)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Dysarthria (HP:0001260)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Borderline personality disorder (HP:0012076)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Absent speech (HP:0001344)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Celiac disease (HP:0002608)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Wide mouth (HP:0000154)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Constipation (HP:0002019)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Constipation (HP:0002019)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Dysphagia (HP:0002015)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Asthma (HP:0002099)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Dilatation of renal calices (HP:0100581)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Broad chin (HP:0011822)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Infantile onset (HP:0003593)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)