TaoMedAI/RareMedData huggingface dataset:
Gene: MED12
Phenotype: Open mouth (HP:0000194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Cleft palate (HP:0000175)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Wide mouth (HP:0000154)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Wide mouth (HP:0000154)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Floppy infant (HP:0008947)
Associated disease: BMRS, MKB type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, MKB type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type (ORPHA:293707)
Gene: MED12
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Long thumb (HP:0032524)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Decreased liver function (HP:0001410)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Portal hypertension (HP:0001409)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Anal stenosis (HP:0002025)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Anal atresia (HP:0002023)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Anal atresia (HP:0002023)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Anal atresia (HP:0002023)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Constipation (HP:0002019)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Constipation (HP:0002019)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Constipation (HP:0002019)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Constipation (HP:0002019)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Deep philtrum (HP:0002002)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Vomiting (HP:0002013)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Portal inflammation (HP:0033196)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Esophageal varix (HP:0002040)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Malrotation of colon (HP:0004785)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Broad-based gait (HP:0002136)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Skin tags (HP:0010609)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Abnormal large intestine morphology (HP:0002250)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hematemesis (HP:0002248)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Fine hair (HP:0002213)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Vertigo (HP:0002321)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Ectopic ureteral orifice (HP:6000413)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Partial anomalous pulmonary venous return (HP:0010773)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Short thumb (HP:0009778)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Facial wrinkling (HP:0009762)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Facial wrinkling (HP:0009762)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Drooling (HP:0002307)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Abnormality of the biliary system (HP:0004297)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Hypersplenism (HP:0001971)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Nystagmus (HP:0000639)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Broad hallux (HP:0010055)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Dental crowding (HP:0000678)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Dental crowding (HP:0000678)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Dental crowding (HP:0000678)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Dental crowding (HP:0000678)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Microdontia (HP:0000691)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Broad thumb (HP:0011304)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Broad thumb (HP:0011304)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Decreased body weight (HP:0004325)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Short stature (HP:0004322)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Short stature (HP:0004322)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Short stature (HP:0004322)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Short stature (HP:0004322)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Irritability (HP:0000737)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Mild hearing impairment (HP:0012712)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Autism (HP:0000717)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Emotional lability (HP:0000712)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Psychosis (HP:0000709)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Psychosis (HP:0000709)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Narrow chest (HP:0000774)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Long nose (HP:0003189)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Preauricular pit (HP:0004467)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Preauricular pit (HP:0004467)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hypertension (HP:0000822)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Limited elbow extension and supination (HP:0005852)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Pruritus (HP:0000989)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Jaundice (HP:0000952)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Sacral dimple (HP:0000960)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Sacral dimple (HP:0000960)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Sparse hair (HP:0008070)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Epicanthus (HP:0000286)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Epicanthus (HP:0000286)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Coarse facial features (HP:0000280)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BMRS, MKB type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, MKB type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type (ORPHA:293707)
Gene: MED12
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Macrocephaly (HP:0000256)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Narrow face (HP:0000275)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Narrow face (HP:0000275)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Long face (HP:0000276)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Malar flattening (HP:0000272)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Prominent occiput (HP:0000269)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: High palate (HP:0000218)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: High palate (HP:0000218)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: High palate (HP:0000218)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Slender build (HP:0001533)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Bladder exstrophy (HP:0002836)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Growth delay (HP:0001510)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)