TaoMedAI/RareMedData huggingface dataset:
Gene: PIGN
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Fair hair (HP:0002286)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Rectovestibular fistula (HP:0025025)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Small hand (HP:0200055)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Athetosis (HP:0002305)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Nystagmus (HP:0000639)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Nystagmus (HP:0000639)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Amblyopia (HP:0000646)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Amblyopia (HP:0000646)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Asymmetric crying face (HP:0011333)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Synophrys (HP:0000664)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Narrow chest (HP:0000774)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Narrow chest (HP:0000774)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Short nose (HP:0003196)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Short nose (HP:0003196)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Prominent palatine ridges (HP:0010291)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Epicanthus (HP:0000286)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Epicanthus (HP:0000286)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Full cheeks (HP:0000293)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Prominent occiput (HP:0000269)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: High palate (HP:0000218)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: High palate (HP:0000218)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: High palate (HP:0000218)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Abnormal ilium morphology (HP:0002867)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Omphalocele (HP:0001539)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Cupped ear (HP:0000378)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Overfolded helix (HP:0000396)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hoarse cry (HP:0001615)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Long philtrum (HP:0000343)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Long philtrum (HP:0000343)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Broad forehead (HP:0000337)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Small forehead (HP:0000350)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Abnormal aortic arch morphology (HP:0012303)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Partial absence of cerebellar vermis (HP:0002951)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Blepharitis (HP:0000498)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Strabismus (HP:0000486)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Short neck (HP:0000470)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Short neck (HP:0000470)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Short foot (HP:0001773)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Pes cavus (HP:0001761)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Prominent tragus (HP:0011271)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Prominent superior crus of antihelix (HP:0011247)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Esotropia (HP:0000565)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: WBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 107 (OMIM:617639)
Gene: WBP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 107 (OMIM:617639)
Gene: CLDN14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
Gene: CLDN14
Phenotype: Nonprogressive (HP:0003680)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
Gene: CLDN14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
Gene: CLDN14
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
Gene: ARL2BP
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Productive cough (HP:0031245)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)