From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most [wikidata.org]

Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). [malacards.org]

The unifying findings in these patients with XLMR are microcephaly and short stature. [ncbi.nlm.nih.gov]

Common features of X-linked mental retardation caused by PQBP1 mutation seem to be mental retardation, microcephaly, and short stature. [egl-eurofins.com]

These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen [ncbi.nlm.nih.gov]

Patients are thin and show failure to thrive. Delayed motor and language development is noticed in children from an early age. Moderate to severe intellectual deficiency is seen in two thirds of cases. [orpha.net]

Other reported features include failure to thrive, growth restriction, extrapyramidal features, spasticity, seizures and muscular atrophy. [invitae.com]

Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. [mendelian.co]

A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. [icd10data.com]

hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal defect ; Wide nasal bridge ; X-linked recessive inheritance Associated Genes [mousephenotype.org]

The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half-depilated eyebrows, dysplastic or protruding ears and rough slightly sparse hair. [hal.archives-ouvertes.fr]

G H I J K L M N O P Q R S T U V W X Y Z R(10) Syndrome R(12) Syndrome R(13) Syndrome R(15) Syndrome R(17) Syndrome R(18) Syndrome R(19) Syndrome R(20) Syndrome R(4) Syndrome R(6) Syndrome R(7) Syndrome Radial Ray Defects-Triangular Face-Telecanthus-Sparse [neo-genetics.com]

Sparse hair MedGen UID: 332942 • Concept ID: C1837770 • Finding Reduced density of hairs. [ncbi.nlm.nih.gov]

OOA Osteogenesis imperfecta, type I 166200 AD APA Osteopenia and sparse hair 259690 AR(?) [wohproject.org]

RETARDATION SYNDROME; SHS Classification abdominal surgical, developmental, genetic, neurological Phenotypes Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous [mousephenotype.org]

Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella) [malacards.org]

Characteristic craniofacial features include long triangular faces with upslanting palpebral fissures, half-depilated eyebrows, large ridged or bulbous nose with overhanging columella, short philtrum, and cupped and laterally protruding ears. [orpha.net]

Facial features characteristic of this disorder include a long, narrow face ; outside corners of the eyes that point upward ( upslanting palpebral fissures ); a long, bulbous nose with a low-hanging separation between the nostrils ( overhanging columella [ghr.nlm.nih.gov]

Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract ; Cerebral atrophy ; Cleft palate ; Clinodactyly of the 5th finger ; Coloboma ; Cupped ear ; Decreased testicular size ; Epicanthus ; Hearing impairment ; High palate ; Hypermetropia ; Hyperreflexia [mousephenotype.org]

Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. [ncbi.nlm.nih.gov]

[…] muscle hypoplasia, childhood hypotonia, ataxia, athetosis, dysarthria, progressing to spastic paraplegia MCT8 (SLC16A2), Xq13 ARX-related syndromes (includes Partington, Proud, West, XLAG syndromes and nonsyndromal XLMR) Partington: dysarthria, dystonia, hyperreflexia [pediatrics.aappublications.org]

Neurological symptoms include spastic diplegia with limited abduction angle and patellar hyperreflexia. Based on the above-mentioned clinical signs and symptoms, the diagnosis Lenz microphthalmia syndrome has been proposed. [doi.org]

[…] ear High hypermetropia Abnormality of the ribs Paraplegia Hypoplasia of the maxilla Iris coloboma Anxiety Spastic paraplegia Long face Sparse hair Broad columella Joint stiffness Spastic diplegia Thickened calvaria Alopecia Long philtrum Babinski sign Hyperreflexia [mendelian.co]