TaoMedAI/RareMedData huggingface dataset:
Gene: NECTIN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Supernumerary maxillary incisor (HP:0006332)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Cleft lip (HP:0410030)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: 2-4 finger cutaneous syndactyly (HP:0010709)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Brittle hair (HP:0002299)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Progressive hypotrichosis (HP:0002296)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Dry hair (HP:0011359)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Anodontia (HP:0000674)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Anodontia (HP:0000674)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Microdontia (HP:0000691)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Synophrys (HP:0000664)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Maternal teratogenic exposure (HP:0011438)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Abnormal Eustachian tube morphology (HP:0040115)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Lip pit (HP:0100267)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Alopecia (HP:0001596)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Malar flattening (HP:0000272)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Macrodontia (HP:0001572)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Triangular face (HP:0000325)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Disturbance of facial expression (HP:0005324)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: NECTIN1
Phenotype: Macrotia (HP:0000400)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Abnormal nasal septum morphology (HP:0000419)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: NECTIN1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Protruding ear (HP:0000411)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: NECTIN1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: PEX19
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX19
Phenotype: CNS demyelination (HP:0007305)
Associated disease: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Gene: PEX19
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX19
Phenotype: Sepsis (HP:0100806)
Associated disease: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Gene: PEX19
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX19
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX19
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Gene: PEX19
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX19
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX19
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)