[…] apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Muscular hypotonia of the trunk Gait ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad [mendelian.co]

congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015 ). [mendelian.co]

A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999 ).Congenital central hypoventilation syndrome has been associated [mendelian.co]

Triangular face Small hand Broad nasal tip Narrow forehead Decreased body weight Sacral dimple Choanal stenosis Short chin Deep palmar crease Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Conductive hearing impairment Splenomegaly [mendelian.co]

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS Is also known as autonomic control, congenital failure of, ondine curse, congenital;cchs; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome; ondine curse [mendelian.co]

Polymicrogyria Hirsutism Thick vermilion border Postaxial polydactyly Cerebellar vermis hypoplasia Encephalocele Intellectual disability, profound Deep philtrum Hypercapnia Abnormality of the autonomic nervous system Molar tooth sign on MRI Sleep apnea Constipation [mendelian.co]

insufficiency Subcutaneous lipoma Epibulbar dermoid Abnormality of the parathyroid gland Death in infancy Epidermal nevus Thymus hyperplasia Bronchogenic cyst Cryptorchidism Muscle weakness Delayed speech and language development Tics Midface retrusion [mendelian.co]

patch Hyperostosis Irregular hyperpigmentation Genu recurvatum Exostoses Heterochromia iridis Lower limb asymmetry Communicating hydrocephalus Venous insufficiency Subcutaneous lipoma Epibulbar dermoid Abnormality of the parathyroid gland Death in infancy [mendelian.co]

nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Muscular hypotonia of the trunk Gait ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Polysplenia [mendelian.co]

[…] ridge Sleep disturbance Bilateral ptosis Neurological speech impairment Corneal opacity Abnormality of movement Unsteady gait Abnormal cerebellum morphology Hypopigmentation of the skin Apraxia Low anterior hairline Involuntary movements Postural tremor Mask-like [mendelian.co]

speech Reduced visual acuity Hearing abnormality Aniridia Hypoplasia of the fovea Hypoplasia of the iris Speech apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry [mendelian.co]

[…] left heart Polysplenia Low hanging columella Accessory spleen Somatic mosaicism Facial hemangioma Facial hypertrichosis Autosomal dominant contiguous gene syndrome Cerebral cortical atrophy Abnormality of the hairline Ataxia Nystagmus Visual impairment Dysarthria [mendelian.co]

speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Muscular hypotonia of the trunk Gait ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Polysplenia Low hanging [mendelian.co]

movements Postural tremor Mask-like facies Slurred speech Reduced visual acuity Hearing abnormality Aniridia Hypoplasia of the fovea Hypoplasia of the iris Speech apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of [mendelian.co]

ataxia Polycystic ovaries Nevus sebaceous Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Polysplenia Low hanging columella Accessory spleen Somatic mosaicism Facial hemangioma Facial hypertrichosis Autosomal dominant contiguous [mendelian.co]

A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999 ).Congenital central hypoventilation syndrome has been associated [mendelian.co]