TaoMedAI/RareMedData huggingface dataset:
Gene: WAC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Sleep abnormality (HP:0002360)
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: Sleep abnormality (HP:0002360)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Sleep abnormality (HP:0002360)
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: Hirsutism (HP:0001007)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Hirsutism (HP:0001007)
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 cupid's bow (HP:0010800)
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: Branchial anomaly (HP:0009794)
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: Short palm (HP:0004279)
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: Long palpebral fissure (HP:0000637)
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: Amblyopia (HP:0000646)
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: Truncal obesity (HP:0001956)
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 facial shape (HP:0001999)
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: Synophrys (HP:0000664)
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: Synophrys (HP:0000664)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Synophrys (HP:0000664)
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: Short palpebral fissure (HP:0012745)
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: Anxiety (HP:0000739)
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: Anxiety (HP:0000739)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Anxiety (HP:0000739)
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: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Widened subarachnoid space (HP:0012704)
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: Aggressive behavior (HP:0000718)
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: Aggressive behavior (HP:0000718)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Aggressive behavior (HP:0000718)
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: Agitation (HP:0000713)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Autistic behavior (HP:0000729)
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: Autistic behavior (HP:0000729)
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: Atypical behavior (HP:0000708)
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: Atypical behavior (HP:0000708)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Atypical behavior (HP:0000708)
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: Short nose (HP:0003196)
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: Inverted nipples (HP:0003186)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Inverted nipples (HP:0003186)
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: Single transverse palmar crease (HP:0000954)
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: Pes valgus (HP:0008081)
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: Epicanthus (HP:0000286)
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: Coarse facial features (HP:0000280)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Full cheeks (HP:0000293)
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: Full cheeks (HP:0000293)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Brachycephaly (HP:0000248)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Thin upper lip vermilion (HP:0000219)
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: Thin upper lip vermilion (HP:0000219)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Obesity (HP:0001513)
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 pinna morphology (HP:0000377)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Prominent antihelix (HP:0000395)
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: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Posteriorly rotated ears (HP:0000358)
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: Posteriorly rotated ears (HP:0000358)
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: Posteriorly rotated ears (HP:0000358)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Broad forehead (HP:0000337)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Broad forehead (HP:0000337)
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: Coarctation of aorta (HP:0001680)
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: Square face (HP:0000321)
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: Bicuspid aortic valve (HP:0001647)
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: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Pulmonic stenosis (HP:0001642)
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: Ventricular septal defect (HP:0001629)
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: Abnormal heart morphology (HP:0001627)
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: Simple febrile seizure (HP:0011171)
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: Typical absence seizure (HP:0011147)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Ventricular hypertrophy (HP:0001714)
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: Abnormal nostril morphology (HP:0005288)
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: Depressed nasal bridge (HP:0005280)
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: Depressed nasal bridge (HP:0005280)
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: Depressed nasal bridge (HP:0005280)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Astigmatism (HP:0000483)
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: Astigmatism (HP:0000483)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Downslanted palpebral fissures (HP:0000494)
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: Deeply set eye (HP:0000490)
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: Deeply set eye (HP:0000490)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Deeply set eye (HP:0000490)
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: Broad nasal tip (HP:0000455)
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: Short neck (HP:0000470)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Abnormal brain morphology (HP:0012443)
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: Pes planus (HP:0001763)
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: Choanal atresia (HP:0000453)
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: Bulbous nose (HP:0000414)
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: Bulbous nose (HP:0000414)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Bulbous nose (HP:0000414)
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: Wide nasal bridge (HP:0000431)
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: Visual impairment (HP:0000505)
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: Abnormality of vision (HP:0000504)
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: Prominent forehead (HP:0011220)
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: Prominent forehead (HP:0011220)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Prominent forehead (HP:0011220)
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: Visual loss (HP:0000572)
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: Thick eyebrow (HP:0000574)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: WAC
Phenotype: Thick eyebrow (HP:0000574)
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: Chorioretinal coloboma (HP:0000567)
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)