Human (79 sources):
Abducens palsy,
Abnormal nasopharynx morphology,
Abnormal pinna morphology,
Abnormal posterior cranial fossa morphology,
Abnormality of pelvic girdle bone morphology,
Abnormality of the dentition,
Abnormality of the nail,
Abnormality of the sense of smell,
Abnormality of the ulna,
Abnormality of the voice,
Absent hand,
Aplasia of the pectoralis major muscle,
Aplasia/Hypoplasia involving the metacarpal bones,
Aplasia/Hypoplasia of the radius,
Aplasia/Hypoplasia of the thumb,
Aplasia/Hypoplasia of the tongue,
Arthrogryposis multiplex congenita,
Autism,
Bifid uvula,
Blepharitis,
Brachydactyly,
Breast aplasia,
Camptodactyly,
Cleft palate,
Clinodactyly,
Clinodactyly of the 5th finger,
Clumsiness,
Congenital fibrosis of extraocular muscles,
Corneal opacity,
Cranial nerve paralysis,
Decreased testicular size,
Delayed speech and language development,
Depressed nasal bridge,
Dysarthria,
Dysdiadochokinesis,
Dysphagia,
Epicanthus,
Esotropia,
Everted lower lip vermilion,
Exotropia,
Facial diplegia,
Facial palsy,
Feeding difficulties in infancy,
Finger syndactyly,
Gait disturbance,
Hand clenching,
Hearing impairment,
High palate,
Hypertelorism,
Hypogonadotropic hypogonadism,
Hypoplasia of the brainstem,
Hypotonia,
Infantile muscular hypotonia,
Intellectual disability, mild,
Lower limb undergrowth,
Mask-like facies,
Microdontia,
Micrognathia,
Micropenis,
Microphthalmia,
Motor delay,
Multiple cafe-au-lait spots,
Open mouth,
Ophthalmoplegia,
Peripheral neuropathy,
Pes planus,
Poor coordination,
Ptosis,
Radial deviation of finger,
Respiratory distress,
Short neck,
Short phalanx of finger,
Skeletal muscle atrophy,
Split hand,
Strabismus,
Syndactyly,
Talipes equinovarus,
Tooth agenesis,
Visual impairment
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