Phenotypes for disease #00599 (LADD (lacrimoauriculodentodigital syndrome))

9 entries on 1 page. Showing entries 1 - 9.
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0000250749 no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia) LADD syndrome LADD Familial, autosomal dominant - - - - - Johan den Dunnen 00332561
0000250750 no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism LADD syndrome LADD Familial, autosomal dominant - - - - - Johan den Dunnen 00332562
0000250751 no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism LADD syndrome LADD Familial, autosomal dominant - - - - - Johan den Dunnen 00332563
0000250752 no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism LADD syndrome LADD Isolated (sporadic) - - - - - Johan den Dunnen 00332564
0000250753 no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism LADD syndrome LADD Familial, autosomal dominant - - - - - Johan den Dunnen 00332565
0000250754 alacrima, aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, conjunctivitis; cup-shaped ear, small ears, hearing loss; peg-shaped teeth, microdontia, hypodontia, root anomalies, dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia) LADD syndrome LADD Familial, autosomal dominant - - - - - Johan den Dunnen 00332566
0000250755 see paper; ... LADD syndrome LADD Isolated (sporadic) - - - - - Johan den Dunnen 00332567
0000295573 corneal opacity, anophthalmia, neurodevelopmental delay, hipotonia, abnormality of the pinna, severe hearing impairment, atresia of the external auditory canal, conical tooth, syndactyly, small nail. anophthalmia LADD syndrome Familial, autosomal dominant 02y01m - - anophthalmia (HPO:0000528) - Miriam Erandi Reyna-Fabián 00402813
0000339576 esophageal atresia, dextrocardia, hypoplasia of the phalanges of the thumb, lacrimal gland aplasia, xerostomía, pulmonar hipoplasia, scoliosis, madelung deformity, dental caries, generalized periodontitis VACTERL association LADD syndrome 3 and esophageal atresia Familial, autosomal dominant 00y 22y 00y00m00d Congenital onset - Maria Elena García Paya 00450521
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