TaoMedAI/RareMedData huggingface dataset:
Gene: KATNIP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Micropenis (HP:0000054)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Cleft palate (HP:0000175)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Cleft lip (HP:0410030)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Short stature (HP:0004322)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ATP11A
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Areflexia (HP:0001284)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Typically de novo (HP:0025352)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 (OMIM:620384)
Gene: ATP11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Gene: ATP11A
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Severe short stature (HP:0003510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Progressive (HP:0003676)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 (OMIM:620384)
Gene: ATP11A
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Gene: ATP11A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 (OMIM:620384)
Gene: ATP11A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Gene: ATP11A
Phenotype: Abnormal speech discrimination (HP:0001963)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 (OMIM:620384)
Gene: ATP11A
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Gene: ATP11A
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Gene: ATP11A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: ATP11A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ATP11A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 (OMIM:620384)
Gene: ATP11A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Gene: ATP11A
Phenotype: Cataract (HP:0000518)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Gene: DENND5A
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Open mouth (HP:0000194)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Facial-lingual fasciculations (HP:0007089)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Anxiety (HP:0000739)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Macrotia (HP:0000400)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Prominent nose (HP:0000448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DENND5A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Gene: DDHD2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Constipation (HP:0002019)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)