TaoMedAI/RareMedData huggingface dataset:
Gene: ERLIN2
Phenotype: Neck joint contracture (HP:0005997)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Spastic gait (HP:0002064)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Pseudobulbar affect (HP:0002193)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Biceps hyperreflexia (HP:0033205)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Paresthesia (HP:0003401)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Abnormal lumbar spine morphology (HP:0100712)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Abnormal lumbar spine morphology (HP:0100712)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Hand tremor (HP:0002378)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Hand tremor (HP:0002378)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Loss of speech (HP:0002371)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Synophrys (HP:0000664)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Synophrys (HP:0000664)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Joint contracture (HP:0034392)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Hip contracture (HP:0003273)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: High palate (HP:0000218)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Bilateral wrist flexion contracture (HP:0012453)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: LZTS1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: LZTS1
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: TREH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TREHALASE DEFICIENCY (OMIM:612119)
Gene: TREH
Phenotype: Malabsorption (HP:0002024)
Associated disease: Isolated trehalose intolerance; Trehalase deficiency (ORPHA:103909)
Gene: TREH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Isolated trehalose intolerance; Trehalase deficiency (ORPHA:103909)
Gene: TREH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: TREHALASE DEFICIENCY (OMIM:612119)
Gene: TREH
Phenotype: Diarrhea (HP:0002014)
Associated disease: Isolated trehalose intolerance; Trehalase deficiency (ORPHA:103909)
Gene: TREH
Phenotype: Diarrhea (HP:0002014)
Associated disease: TREHALASE DEFICIENCY (OMIM:612119)
Gene: TREH
Phenotype: Vomiting (HP:0002013)
Associated disease: Isolated trehalose intolerance; Trehalase deficiency (ORPHA:103909)
Gene: TREH
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Isolated trehalose intolerance; Trehalase deficiency (ORPHA:103909)
Gene: TREH
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Isolated trehalose intolerance; Trehalase deficiency (ORPHA:103909)
Gene: CEP250
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 2 (OMIM:618358)
Gene: CEP250
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 2 (OMIM:618358)
Gene: CEP250
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 2 (OMIM:618358)
Gene: CEP250
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: High-frequency sensorineural hearing impairment (HP:0001757)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 2 (OMIM:618358)
Gene: CEP250
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP250
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WBP4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Microtia (HP:0008551)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Motor delay (HP:0001270)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Seizure (HP:0001250)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Hypotonia (HP:0001252)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Intellectual disability (HP:0001249)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Hypospadias (HP:0000047)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Absent speech (HP:0001344)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Cleft palate (HP:0000175)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Anal atresia (HP:0002023)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Fine hair (HP:0002213)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Dental crowding (HP:0000678)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Decreased body weight (HP:0004325)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Short stature (HP:0004322)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Hyperactivity (HP:0000752)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Autistic behavior (HP:0000729)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Anteverted ears (HP:0040080)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Epicanthus (HP:0000286)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Retrognathia (HP:0000278)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Turricephaly (HP:0000262)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Microcephaly (HP:0000252)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: High palate (HP:0000218)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Small for gestational age (HP:0001518)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Linear earlobe crease (HP:0031510)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Low-set ears (HP:0000369)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Narrow forehead (HP:0000341)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Smooth philtrum (HP:0000319)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Short philtrum (HP:0000322)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Strabismus (HP:0000486)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Pes planus (HP:0001763)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Protruding ear (HP:0000411)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Sandal gap (HP:0001852)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Proptosis (HP:0000520)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease:  (OMIM:620852)
Gene: WBP4
Phenotype: Broad inferior crus of antihelix (HP:0011237)
Associated disease:  (OMIM:620852)
Gene: SUPT16H
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Spina bifida (HP:0002414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Seizure (HP:0001250)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Polyphagia (HP:0002591)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Cyst of the ductus choledochus (HP:0100890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Slurred speech (HP:0001350)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Tethered cord (HP:0002144)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)