TaoMedAI/RareMedData huggingface dataset:
Gene: RNF113A
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Reduced hair sulfur content (HP:0034425)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Congenital onset (HP:0003577)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Microcephaly (HP:0000252)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: High forehead (HP:0000348)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Chronic decreased circulating IgG1 (HP:0041068)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Gene: RNF113A
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: RNF113A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ZMYM2
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Microtia (HP:0008551)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Chordee (HP:0000041)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Grade III vesicoureteral reflux (HP:0033737)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Abnormality of the palmar creases (HP:0010490)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Tethered cord (HP:0002144)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: High hypermetropia (HP:0008499)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Short thumb (HP:0009778)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Carious teeth (HP:0000670)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Enuresis (HP:0000805)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hematocolpos (HP:0031923)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Psychosis (HP:0000709)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Long nose (HP:0003189)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Short 5th finger (HP:0009237)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Short finger (HP:0009381)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Urethral stricture (HP:0012227)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Imperforate hymen (HP:0030011)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Small earlobe (HP:0000385)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Broad neck (HP:0000475)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Short foot (HP:0001773)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Broad toe (HP:0001837)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Gene: ZMYM2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)