stature and moderate intellectual deficit. [orpha.net]

Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis [rgd.mcw.edu]

He had mental retardation, short stature, micropenis, and cryptorchidism. [omim.org]

Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). [mendelian.co]

He showed normal weight gain and head circumference, which had not been described previously. Hematologic and molecular studies of the patient excluded the thalassemia trait or Hb H disease. [omim.org]

[…] to thrive, early hypotonia, and later hypertonia, all suggestive of the Smith–Fineman–Myers syndrome. [en.wikipedia.org]

[…] to thrive Widely-spaced maxillary central incisors Intrauterine growth retardation Congenital onset Severe short stature Hypoglycemia Sporadic Abnormality of the pinna Postnatal growth retardation Attention deficit hyperactivity disorder Talipes calcaneovalgus [mendelian.co]

[…] amyotrophy Papilloma of choroid plexus Precursor B-cell acute lymphoblastic leukemia Severe combined immunodeficiency due to DNA-PKcs deficiency Short rib-polydactyly syndrome, Majewski type Werner syndrome Catecholaminergic polymorphic ventricular tachycardia [csbg.cnb.csic.es]

[…] retardation English OMIM 309580 L9551686 no S7524100 Y JMS (JABL) Congenital Mental Retardation Syndromes Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia [doctor.am]

[…] stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia [omim.org]

Hyperactivity ; Hyperreflexia ; Hypertelorism ; Hypogonadism ; Hypoplastic philtrum ; Hypospadias ; Infantile muscular hypotonia ; Intellectual disability, progressive ; Intellectual disability, severe ; Kyphoscoliosis ; Low-set ears ; Lower limb hypertonia ; Macroglossia [mousephenotype.org]

[…] of finger Phimosis Cystic hygroma Hypoplastic left heart Pulmonary hypoplasia Drooling Short distal phalanx of finger Scrotal hypoplasia Single umbilical artery Narrow face Bicuspid aortic valve Open mouth Narrow forehead Renal hypoplasia Small hand Macroglossia [mendelian.co]

Brachydactyly ; Clinodactyly ; Coarse facial features ; Constipation ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Depressed nasal bridge ; Dolichocephaly ; Drooling ; Epicanthus ; Exotropia ; Gastroesophageal reflux ; Genu [mousephenotype.org]

Diseases related with Wide nasal bridge and Genu valgum In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Genu valgum that can help you solving undiagnosed cases. [mendelian.co]

Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are angled inward (genu valgum) frequently occur. [ghr.nlm.nih.gov]

Diseases related with Hearing impairment and Open mouth In the following list you will find some of the most common rare diseases related to Hearing impairment and Open mouth that can help you solving undiagnosed cases. [mendelian.co]

Open mouth ; Optic atrophy ; Paroxysmal bursts of laughter ; Pes planus ; Phenotypic variability ; Posteriorly rotated ears ; Protruding tongue ; Ptosis ; Radial deviation of finger ; Renal hypoplasia ; Scrotal hypoplasia ; Seizures ; Sensorineural hearing [mousephenotype.org]

Hearing impairment with mixed sensorineural/conductive defects is common. Genetics This autosomal recessive disorder results from homozygous mutations in PRDM5 (4q27). [disorders.eyes.arizona.edu]

A new X-linked mental retardation syndrome with distal limb defects, hearing impairment, verrucosis and immunodeficiency. Am J Hum Genet 1999 65 : A337. 40. Porteous MEM, Johnson H, Burn J et al :. [nature.com]

forehead ; Obesity ; Open mouth ; Optic atrophy ; Paroxysmal bursts of laughter ; Pes planus ; Phenotypic variability ; Posteriorly rotated ears ; Protruding tongue ; Ptosis ; Radial deviation of finger ; Renal hypoplasia ; Scrotal hypoplasia ; Seizures [mousephenotype.org]

forehead Spastic tetraplegia Protruding tongue Genu recurvatum Excessive salivation Acetabular dysplasia Everted upper lip vermilion Synophrys Lumbar scoliosis Periventricular leukomalacia Broad forehead Hypoplastic thumbnail Growth delay Encephalopathy [mendelian.co]

[…] features ; Constipation ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Depressed nasal bridge ; Dolichocephaly ; Drooling ; Epicanthus ; Exotropia ; Gastroesophageal reflux ; Genu valgum ; High palate ; Hyperactivity ; Hyperreflexia [mousephenotype.org]

[…] parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia [en.wikipedia.org]

Muscle tone was hypotonic, but 1 patient had hyperreflexia. [omim.org]

Cerebellar dysplasia Dilated fourth ventricle Dysgenesis of the cerebellar vermis Anxiety Developmental regression Pectus carinatum Reduced visual acuity Intellectual disability, mild Chronic constipation Slow progression Spasticity Flexion contracture Hyperreflexia [mendelian.co]

Coarse facial features ; Constipation ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Depressed nasal bridge ; Dolichocephaly ; Drooling ; Epicanthus ; Exotropia ; Gastroesophageal reflux ; Genu valgum ; High palate ; Hyperactivity [mousephenotype.org]

[…] cases Strabismus Uncommon Symptoms - Between 30% and 50% cases Brachydactyly Anteverted nares Absent speech Autosomal dominant inheritance Short philtrum Feeding difficulties Midface retrusion Autism Wide nasal bridge Hypoplasia of the corpus callosum Hyperactivity [mendelian.co]

[…] with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity [en.wikipedia.org]

[…] were an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, instability in walking, early hypotonia, hyperreflexia, hyperactivity [omim.org]

Growth was less than the third percentile, with delayed bone age. The affected males had deafness, flat nasal bridge, several ocular abnormalities, and a rudimentary scrotum with cryptorchidism. One had a small penis. [omim.org]