TaoMedAI/RareMedData huggingface dataset:
Gene: SIK3
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Constipation (HP:0002019)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Asthma (HP:0002099)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Chiari malformation (HP:0002308)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Mesomelia (HP:0003027)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Elbow contracture (HP:0034391)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Annular pancreas (HP:0001734)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: MED13L
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Syndactyly (HP:0001159)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Poor speech (HP:0002465)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Motor delay (HP:0001270)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Hypotonia (HP:0001252)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Ataxia (HP:0001251)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Dysarthria (HP:0001260)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MED13L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Open mouth (HP:0000194)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Macroglossia (HP:0000158)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Macroglossia (HP:0000158)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Wide mouth (HP:0000154)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Incoordination (HP:0002311)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MED13L
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Short stature (HP:0004322)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Arthrogryposis-like hand anomaly (HP:0005612)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Autism (HP:0000717)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Autism (HP:0000717)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Restlessness (HP:0000711)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Agitation (HP:0000713)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Short nose (HP:0003196)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MED13L
Phenotype: Ocular anterior segment dysgenesis (HP:0007700)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Epicanthus (HP:0000286)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: High palate (HP:0000218)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Low-set ears (HP:0000369)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MED13L
Phenotype: Broad forehead (HP:0000337)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Round face (HP:0000311)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Round face (HP:0000311)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Triangular face (HP:0000325)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Triangular face (HP:0000325)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MED13L
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Macrotia (HP:0000400)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Short neck (HP:0000470)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MED13L
Phenotype: Ptosis (HP:0000508)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Coloboma (HP:0000589)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)