Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. Am J Med Genet. 2000 Jun 5;92(4):285-92. Mirhosseini SA, Holmes LB, Walton DS. [disorders.eyes.arizona.edu]

Many affected individuals have short stature, and some have later onset of muscular hypertonia and spasticity. Diagnosis is made upon observing the aforementioned symptoms. [cags.org.ae]

Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia. Hartnup's Disease Autosomal Recessive. [kumc.edu]

Ragged Red Fibers (MERRF) progressive myoclonic epilepsy “Ragged Red Fibers” are clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear when muscle is stained with modified Gömöri trichrome stain short [clubalthea.com]

stature, craniofacial dysmorphism, and congenital heart defects (多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形) B3GAT3 Norwalk virus infection, resistance to B12QTL1(ビタミンB12血漿レベルQTL1) FUT2 PNH1 (Paroxysmal nocturnal hemoglobinuria, somatic; 発作性夜間ヘモグロビン尿1型) PIGA PNH2 [jcggdb.jp]

face, bushy eyebrows with synophrys, hypotelorism, large nose with long columella, short philtrum, and full upper lip. [cags.org.ae]

It was described in 1934 by Folling in 10 children with ID, hypertonia, and hyperreflexia, with a musty odor in urine and sweat. Seizures and tremors are common, as are eczema and psychotic manifestations. [emedicine.medscape.com]