TaoMedAI/RareMedData huggingface dataset:
Gene: ZNFX1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Extrapulmonary tuberculosis (HP:0032271)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Seizure (HP:0001250)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Death in childhood (HP:0003819)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Persistent fever (HP:0033399)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Edema (HP:0000969)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Death in infancy (HP:0001522)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Severe viral infection (HP:0031691)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: ZNFX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Gene: VARS2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: VARS2
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Gene: ZMIZ1
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Long fingers (HP:0100807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Constipation (HP:0002019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Broad hallux (HP:0010055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Short finger (HP:0009381)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Glaucoma (HP:0000501)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Short toe (HP:0001831)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Renal atrophy (HP:0012585)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: ZMIZ1
Phenotype: Coloboma (HP:0000589)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Gene: THOC2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Micropenis (HP:0000054)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Tremor (HP:0001337)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Gliosis (HP:0002171)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Gliosis (HP:0002171)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)