TaoMedAI/RareMedData huggingface dataset:
Gene: NONO
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Abnormal left ventricle morphology (HP:0001711)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Strabismus (HP:0000486)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Perseverative thought (HP:0030223)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Pes planus (HP:0001763)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Prominent nose (HP:0000448)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NONO
Phenotype: Hallux valgus (HP:0001822)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NONO
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Gene: NONO
Phenotype: Myopia (HP:0000545)
Associated disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Gene: NOS1
Phenotype: Decreased circulating prealbumin concentration (HP:0031085)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Cough (HP:0012735)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Bronchitis (HP:0012387)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS1
Phenotype: Weight loss (HP:0001824)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: NOS3
Phenotype: Long-tract sign (HP:0002423)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Stroke (HP:0001297)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: NOS3
Phenotype: Seizure (HP:0001250)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Proteinuria (HP:0000093)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Decreased circulating GABA concentration (HP:0410054)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: NOS3
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: NOS3
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Adult onset (HP:0003581)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: NOS3
Phenotype: Adult onset (HP:0003581)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Eclampsia (HP:0100601)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Preeclampsia (HP:0100602)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: NOS3
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: NOS3
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: NOS3
Phenotype: Hypertension (HP:0000822)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Edema (HP:0000969)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: NOS3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: NOS3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Gene: CNOT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Hirsutism (HP:0001007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Tooth malposition (HP:0000692)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Short 5th finger (HP:0009237)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Gene: CNOT3
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Small hand (HP:0200055)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Hypotelorism (HP:0000601)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Malar flattening (HP:0000272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Prominent occiput (HP:0000269)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: CNOT3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Gene: NOTCH1
Phenotype: Split hand (HP:0001171)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Cutis marmorata telangiectatica congenita (HP:0025107)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Syndactyly (HP:0001159)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH1
Phenotype: Hypertonia (HP:0001276)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)