Motor delay, and Micropenis

Diseases related with Motor delay and Micropenis

In the following list you will find some of the most common rare diseases related to Motor delay and Micropenis that can help you solving undiagnosed cases.

Top matches:

Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

Other less relevant matches:

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Top 5 symptoms//phenotypes associated to Motor delay and Micropenis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Micropenis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Ventriculomegaly Strabismus Micrognathia Failure to thrive Autism Muscular hypotonia Delayed speech and language development Hypospadias Feeding difficulties Flexion contracture Triangular face Prominent forehead Lissencephaly Ventricular septal defect Hypertelorism Hyperactivity Retrognathia High palate Wide nasal bridge Hypoplasia of the corpus callosum Spasticity Abnormal facial shape Nystagmus Respiratory failure

Rare Symptoms - Less than 30% cases

High forehead Focal impaired awareness seizure Scrotal hypoplasia Cerebellar vermis hypoplasia Hypotelorism Focal-onset seizure Long philtrum Facial palsy Pulmonary hypoplasia Cleft palate Intrauterine growth retardation Gliosis Behavioral abnormality Patent ductus arteriosus Myopia Cataract Disproportionate tall stature Pointed chin Downslanted palpebral fissures Hypoplasia of penis Hernia Prominent nose Inguinal hernia Intellectual disability, severe Agenesis of corpus callosum Frontal bossing Microphallus Dilatation Sloping forehead Cerebellar hypoplasia Cerebral cortical atrophy Gait ataxia Bulbous nose Severe global developmental delay Pachygyria Macrotia Thin upper lip vermilion Ataxia Type I lissencephaly Growth delay Cognitive impairment Neonatal hypotonia Attention deficit hyperactivity disorder Diarrhea Ambiguous genitalia Metaphyseal widening Prominent nasal bridge Decreased testicular size Malabsorption Convex nasal ridge Aganglionic megacolon Sepsis Hyperreflexia Specific learning disability Broad femoral neck Obstructive sleep apnea Scaphocephaly 2-3 toe syndactyly Feeding difficulties in infancy Atrial septal defect Accelerated skeletal maturation Congenital hip dislocation Wide nose Overgrowth Wide nasal base Tall stature Cavum septum pellucidum Entropion Bundle branch block Large for gestational age Coxa valga Right bundle branch block Short stature Astigmatism Rhizomelia Mask-like facies Cutis laxa Narrow palpebral fissure Postnatal microcephaly Hypohidrosis Chronic diarrhea Left ventricular hypertrophy Retinopathy Hip dislocation Abnormality of the cerebral white matter Generalized muscle weakness Macroglossia Pigmentary retinopathy Ventricular hypertrophy Open mouth Hypertrophic cardiomyopathy Proximal muscle weakness Congenital muscular dystrophy Skeletal muscle hypertrophy Pneumonia Congestive heart failure Calf muscle hypertrophy Abnormality of the periventricular white matter Left ventricular systolic dysfunction Talipes equinovarus Hyperlordosis Elevated serum creatine phosphokinase Polymicrogyria Long upper lip Blepharophimosis Protruding ear Cardiomyopathy Wide anterior fontanel Infantile spasms Exocrine pancreatic insufficiency Profound global developmental delay Hydranencephaly Duane anomaly Camptodactyly Abnormality of temperature regulation Temperature instability Scoliosis Muscle weakness Respiratory insufficiency Myopathy Areflexia Hyporeflexia Abnormal heart morphology Muscular dystrophy Patellar aplasia Narrow mouth Infra-orbital crease Intention tremor Prominent supraorbital ridges External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Abnormality of the philtrum Retrocerebellar cyst Disorganization of the anterior cerebellar vermis Long face Skeletal muscle atrophy Dysphagia Polyhydramnios Arthrogryposis multiplex congenita Ophthalmoplegia Premature birth Decreased fetal movement Large fontanelles Severe muscular hypotonia Abnormal cerebellum morphology Dysmetria Abnormality of the thorax Spontaneous abortion Ptosis Dysarthria Intellectual disability, mild Muscular hypotonia of the trunk Postnatal growth retardation Narrow forehead Intellectual disability, profound Heterotopia Abnormality of neuronal migration Poor speech Agyria Subependymal nodules Macrocephaly Tremor Mandibular prognathia Deeply set eye Intellectual disability, moderate Short philtrum Neurological speech impairment Adducted thumb Hypokinesia Clinodactyly of the 5th finger Short thumb Toe clinodactyly Birth length less than 3rd percentile Irregular femoral epiphysis Hearing impairment Visual impairment Abnormality of the kidney Abnormal cardiac septum morphology Facial asymmetry Cerebral visual impairment Hypoplasia of the capital femoral epiphysis Horizontal nystagmus Absent thumb Shawl scrotum Truncus arteriosus Pineal cyst Short neck Cerebellar atrophy Short nose Midface retrusion Small earlobe Irregular epiphyses Thin ribs Edema of the dorsum of hands Facial diplegia Nemaline bodies Breech presentation Type 1 muscle fiber predominance Increased connective tissue Axial muscle weakness Multiple prenatal fractures Abnormality of the diaphragm Clinodactyly Mild global developmental delay Delayed skeletal maturation Gastroesophageal reflux Microtia Thick vermilion border Hypoplasia of the maxilla Microdontia Elbow dislocation Slender long bone Prominent metopic ridge Narrow naris


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