The mother noticed progressive weakness of the lower limbs (right more than left limb) initially which progressed to involve the trunk muscles and later the upper limbs. The progressive weakness resulted in regression of milestones. [symbiosisonlinepublishing.com]

[…] pigment aggregation in hair shafts Anemia Neoplasm Long philtrum Neoplasm of the skin Hyperlipidemia Abnormality of the ear Alopecia of scalp Abnormality of calvarial morphology Spotty hypopigmentation Absent pigmentation of the ventral chest Muscle weakness [mendelian.co]

Since the past 2 weeks, he had developed a gradual weakness of all the four limbs followed by altered sensorium. There was no preceding febrile illness or convulsion. With progressive loss of consciousness, he was brought to the hospital. [bioline.org.br]

A few months later she complained of weakness in her legs that progressed to severe hypotony involving the entire body. Patient 6 first developed atactic cerebellar movements. [jamanetwork.com]

Clinical examination revealed an unconscious, fair-complexioned baby (as compared to parents and other siblings) with flat nasal bridge and pudgy cheeks [Figure 1]. [ijtrichology.com]

254 Chapter 28 RuvalcabaMyhre Syndrome 261 DISEASES WITH XLINKED INHERITANCE 263 Chapter 29 FabryAnderson Disease 265 Chapter 30 Adrenoleukodystrophy 273 Chapter 31 Kinky Hair Disease 284 Chapter 32 Incontinentia Pigmenti 293 Chapter 33 A Syndrome of Anosmia [books.google.com]

Syndrome 26 Progeria 27 Neuroectodermal Melanolysosomal Disease 28 Ruvalcaba-Myhre Syndrome Part Three / Diseases with X-Linked Inheritance 29 Fabry-Anderson Disease 30 Adrenoleukodystrophy 31 Kinky Hair Disease 32 Incontinentia Pigmenti 33 A Syndrome of Anosmia [elsevier.com]

Ophthalmologic abnormalities include nystagmus, diplopia, amaurosis and absence of pupillary reflex. [4] Pigmentary abnormalities are the second common clinical feature which include silvery hair, a gradual bronze-colored tan of the sun-exposed areas [bioline.org.br]

These include seizure, severe hypotonia, focal neurodeficits like flaccid/spastic paraplegia, quadriplegia, or ataxia. [9] Ocular abnormalities are common manifesting as nystagmus or diplopia. [ijtrichology.com]

[…] inheritance Abnormality of vision Wide nasal bridge Synophrys Aganglionic megacolon Malabsorption Albinism Peripheral neuropathy Heterochromia iridis White forelock White eyelashes White eyebrow Piebaldism Abnormal bleeding Ocular albinism Cirrhosis Diplopia [mendelian.co]

ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. [malacards.org]

Affiliated tissues include skin, kidney and bone, and related phenotypes are hypertelorism and short neck OMIM : 58 Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight [malacards.org]

[…] short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly [malacards.org]

[…] skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism [malacards.org]