Abnormal nasopharynx morphology, Abnormal palate morphology, Abnormal pinna morphology, Abnormal renal morphology, Abnormal rib morphology, Abnormal sacrum morphology, Abnormal skull morphology, Abnormality of fibula morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the cervical spine, Abnormality of the face, Abnormality of the lower limb, Abnormality of the nail, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of vision, Abnormally large globe, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Amblyopia, Anal atresia, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Atresia of the external auditory canal, Atrial septal defect, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the legs, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Chiari malformation, Chiari type I malformation, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal erosion, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Enamel hypoplasia, Epicanthus, Esophageal atresia, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Flexion contracture, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Headache, Hearing abnormality, Hearing impairment, Hepatosplenomegaly, High forehead, High palate, Hip dysplasia, Hirsutism, Horseshoe kidney, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypopigmented skin patches, Hypoplasia of the lacrimal punctum, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Hypotelorism, Incomplete ossification of pubis, Increased intracranial pressure, Increased level of L-fucose in urine, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intestinal malrotation, Iris coloboma, Joint stiffness, Keratitis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limbal stem cell deficiency, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Micromelia, Microtia, Midface retrusion, Migraine, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow mouth, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Open mouth, Optic atrophy, Osteopenia, Ovarian neoplasm, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Postaxial hand polydactyly, Posterior fossa cyst, Preauricular skin furrow, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Proximal radio-ulnar synostosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Recurrent fractures, Renal agenesis, Respiratory distress, Respiratory insufficiency, Rocker bottom foot, Sagittal craniosynostosis, Scoliosis, Seizure, Sensorineural hearing impairment, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short philtrum, Short stature, Shortening of all middle phalanges of the fingers, Skin tags, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Split foot, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Symphalangism affecting the phalanges of the hand, Syndactyly, Synostosis of carpal bones, Talipes equinovarus, Telecanthus, Thickened helices, Toe syndactyly, Tooth agenesis, Tracheal cartilaginous sleeve, Tracheomalacia, Trigonocephaly, Triphalangeal thumb, Turricephaly, Ulnar bowing, Umbilical hernia, Underdeveloped supraorbital ridges, Upper airway obstruction, Upslanted palpebral fissure, Vaginal atresia, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Vesicoureteral reflux, Visceral angiomatosis, Visual impairment, Visual loss, Wide anterior fontanel, Wide nasal bridge, Xerostomia, obsolete External ear malformation

abnormal bronchiole morphology, abnormal cartilage development, abnormal cecum development, abnormal cerebral hemisphere morphology, abnormal cervical vertebrae morphology, abnormal chondrocyte morphology, abnormal clavicle morphology, abnormal cochlea morphology, abnormal conotruncal ridge morphology, abnormal coronal suture morphology, abnormal cranial cartilage development, abnormal cranial cartilage morphology, abnormal cranial cavity morphology, abnormal cranial synchondrosis, abnormal craniofacial bone morphology, abnormal craniofacial morphology, abnormal cranium morphology, abnormal decidualization, abnormal dermis papillary layer morphology, abnormal developmental patterning, abnormal digestive system morphology, abnormal ear development, abnormal egg cylinder morphology, abnormal embryo development, abnormal endochondral bone ossification, abnormal endoderm development, abnormal endolymphatic duct morphology, abnormal epidermis stratum basale morphology, abnormal epidermis stratum corneum morphology, abnormal frontal bone morphology, abnormal hair cycle, abnormal hair follicle development, abnormal hair follicle morphology, abnormal hair follicle orientation, abnormal heart development, abnormal ilium morphology, abnormal intermaxillary suture morphology, abnormal interparietal bone morphology, abnormal interventricular groove morphology, abnormal intestinal glucose absorption, abnormal ischium morphology, abnormal keratinocyte morphology, abnormal kidney development, abnormal lacrimal gland development, abnormal lambdoid suture morphology, abnormal lateral nasal gland morphology, abnormal left posterior bundle morphology, abnormal limb development, abnormal liver development, abnormal long bone epiphyseal ossification zone morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal long bone hypertrophic chondrocyte zone, abnormal long bone metaphysis morphology, abnormal lung development, abnormal mammary gland bud morphology, abnormal mammary placode morphology, abnormal mandible morphology, abnormal mandibular angle morphology, abnormal maxillary frontal process morphology, abnormal maxillary zygomatic process morphology, abnormal maxillary-premaxillary suture morphology, abnormal membranous labyrinth morphology, abnormal midface morphology, abnormal nail morphology, abnormal nasal bone morphology, abnormal nasal capsule morphology, abnormal nasal gland morphology, abnormal nasal septum cartilage morphology, abnormal nasomaxillary suture morphology, abnormal neurocranium morphology, abnormal osteoblast differentiation, abnormal osteoblast physiology, abnormal osteoblast proliferation, abnormal osteoclast differentiation, abnormal otic capsule morphology, abnormal otic vesicle development, abnormal palatal shelf fusion at midline, abnormal palate development, abnormal palate morphology, abnormal palatine bone horizontal plate morphology, abnormal palatine bone morphology, abnormal pancreas development, abnormal perineum morphology, abnormal pituitary gland development, abnormal placenta development, abnormal placenta morphology, abnormal placenta vasculature, abnormal presphenoid bone morphology, abnormal prostate gland branching morphogenesis, abnormal pulmonary acinus morphology, abnormal right lung morphology, abnormal sagittal suture morphology, abnormal secondary palate development, abnormal seminal vesicle development, abnormal seminal vesicle morphology, abnormal seminal vesicle muscle layer morphology, abnormal skeleton development, abnormal skeleton physiology, abnormal sphenoid bone morphology, abnormal sphenooccipital synchondrosis, abnormal spongiotrophoblast layer morphology, abnormal sternebra morphology, abnormal sternum manubrium morphology, abnormal sternum morphology, abnormal sternum ossification, abnormal stomach glandular region morphology, abnormal submandibular duct morphology, abnormal synaptic vesicle clustering, abnormal synaptic vesicle number, abnormal synchondrosis, abnormal thoracic vertebrae morphology, abnormal thymus development, abnormal thymus morphology, abnormal trabecula carnea morphology, abnormal tracheal cartilage morphology, abnormal trophoblast layer morphology, abnormal truncus arteriosus septation, abnormal umbilical cord morphology, abnormal vasodilation, abnormal vertebrae development, abnormal vestibulocochlear ganglion morphology, abnormal vibrissa number, abnormal xiphoid process morphology, abnormal zigzag hair morphology, abnormal zygomatic arch morphology, abnormal zygomatic bone morphology, absent Rathke's pouch, absent acromion, absent adenohypophysis, absent apical ectodermal ridge, absent blastocoele, absent exorbital lacrimal gland, absent forelimb, absent hindlimb, absent hypodermis muscle layer, absent lacrimal gland bud, absent limb buds, absent limbs, absent lungs, absent palatal rugae, absent placental labyrinth, absent presphenoid bone, absent primitive endoderm, absent pulmonary vein, absent rectum, absent submandibular gland, absent teeth, absent vertebral spinous process, acanthosis, adipose tissue inflammation, aerophagia, arrest of tooth development, atrium hypoplasia, bronchiolectasis, cardiovascular system phenotype, caudal vertebral fusion, cecal atresia, conotruncal ridge hypoplasia, curly tail, decreased birth body size, decreased birth weight, decreased body length, decreased body size, decreased bone volume, decreased brain size, decreased cell proliferation, decreased cranium height, decreased cranium length, decreased embryo size, decreased fetal size, decreased hair follicle number, decreased inner canthal distance, decreased molar number, decreased osteoblast cell number, decreased osteoclast cell number, decreased prostate gland duct number, decreased renal glomerulus number, decreased sebaceous gland number, decreased width of hypertrophic chondrocyte zone, delayed bone ossification, delayed cranial suture closure, delayed intramembranous bone ossification, digestive/alimentary phenotype, dilated distal convoluted tubule, dilated heart atrium, dilated proximal convoluted tubule, disproportionate dwarf, domed cranium, embryo phenotype, embryonic growth retardation, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, endocrine/exocrine gland phenotype, enhanced osteoblast differentiation, enlarged allantois, enlarged fourth ventricle, enlarged lateral ventricles, epidermal cyst, epidermal hyperplasia, epidermis stratum granulosum hyperplasia, epidermis stratum spinosum hyperplasia, eyelids open at birth, failure of chorioallantoic fusion, fused tracheal cartilage rings, growth/size/body region phenotype, impaired branching involved in bronchus morphogenesis, impaired branching involved in trachea morphogenesis, impaired lung alveolus development, impaired lung lobe morphogenesis, increased brain size, increased cranium height, increased gamma-delta T cell number, increased incidence of tumors by chemical induction, increased keratinocyte proliferation, increased osteoblast cell number, increased osteoblast proliferation, increased prostate gland weight, increased skin papilloma incidence, increased trophoblast giant cell number, inner cell mass degeneration, inner ear cyst, lethality throughout fetal growth and development, long incisors, meteorism, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, palatal shelf fusion with tongue or mandible, palatal shelves fail to meet at midline, parietal bossing, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, premature facial suture closure, premature frontonasal suture closure, premature intramembranous bone ossification, premature maxillary-premaxillary suture closure, premature palatomaxillary suture closure, premature presphenoid synchondrosis closure, premature sphenooccipital synchondrosis closure, premature squamoparietal suture closure, premature zygomaticomaxillary suture closure, primary sex reversal, progressive hair loss, reduced male fertility, renal/urinary system phenotype, respiratory system phenotype, sebaceous gland atrophy, short basicranium, short frontal bone, short mandible, short maxilla, short premaxilla, short presphenoid bone, short radius, short rostral-caudal axis, short zygomatic arch, short zygomatic bone, slow postnatal weight gain, small cranium, small frontal bone, small kidney, small lung, small mandible, small neurocranium, small otic capsule, small otic vesicle, small pancreas, small parietal bone, small stomach, split sternal manubrium, submandibular gland hypoplasia, synostosis, thick nasal septum, thin dermal layer, thin epidermis, thin frontal bone, thin parietal bone, thin ventricular wall, ventricular hypoplasia, vision/eye phenotype, wide intermaxillary suture, wide metopic suture, wide sagittal suture