TaoMedAI/RareMedData huggingface dataset:
Gene: DCTN1
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Akinesia (HP:0002304)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Personality changes (HP:0000751)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Anxiety (HP:0000739)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Disinhibition (HP:0000734)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Apathy (HP:0000741)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Apathy (HP:0000741)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Depression (HP:0000716)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Depression (HP:0000716)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hyperorality (HP:0000710)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Dementia (HP:0000726)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Weak voice (HP:0001621)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Weight loss (HP:0001824)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Weight loss (HP:0001824)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCX
Phenotype: Language impairment (HP:0002463)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Motor delay (HP:0001270)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Ataxia (HP:0001251)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Dysarthria (HP:0001260)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Spasticity (HP:0001257)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Flexion contracture (HP:0001371)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Micropenis (HP:0000054)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Pachygyria (HP:0001302)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Dysphagia (HP:0002015)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Infantile onset (HP:0003593)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Agyria (HP:0031882)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Agyria (HP:0031882)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Nystagmus (HP:0000639)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Akinetic mutism (HP:0012672)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Irritability (HP:0000737)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Agitation (HP:0000713)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Autistic behavior (HP:0000729)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Atypical behavior (HP:0000708)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Death in infancy (HP:0001522)
Associated disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Gene: DCX
Phenotype: Aspiration (HP:0002835)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Infantile spasms (HP:0012469)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Delayed myelination (HP:0012448)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DCX
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: X-linked lissencephaly type 1; Lissencephaly type 1 due to doublecortin gene mutation (ORPHA:2148)
Gene: DDB1
Phenotype: Simple ear (HP:0020206)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Hydroureter (HP:0000072)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Wide mouth (HP:0000154)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Esodeviation (HP:0020045)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Broad medial eyebrow (HP:0034003)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Synophrys (HP:0000664)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Anxiety (HP:0000739)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Short nose (HP:0003196)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Retrognathia (HP:0000278)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Full cheeks (HP:0000293)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Obesity (HP:0001513)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Low-set ears (HP:0000369)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Macrotia (HP:0000400)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Telecanthus (HP:0000506)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB1
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Gene: DDB2
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Photophobia (HP:0000613)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Entropion (HP:0000621)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Ectropion (HP:0000656)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)